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The hand and the eye
Review Article THE HAND
AND THE EYE
S. L. FILAN, K. M. RUMBALL and M. A. TONKIN
From the Department of Hand Surgery, Royal North Shore Hospital, Sydney, Australia A variety of systemic diseases may affect both the hand and eye, leading to profound sensory and functional deficits. The aetiology of some of the most common conditions is reviewed, with an explanation of their manifestations in the hand and eye. Recognition of the association between a hand condition and ocular pathology may aid in diagnosis of a systemic disorder or allow early detection and prevention of ocular disease and loss of vision.
Journal of Hand Surgery (British and European Volume, 1997) 22B: 3:293-298 The hands are the eyes of the blind, therefore it is all the more important to recognize the impact of visual impairment while assessing hand dysfunction. When hand sensibility is poor (for example in cerebral palsy, spinal injuries, peripheral nerve disorders) ocular vision provides stereognosis necessary for hand function. Conversely, in the visually impaired, tactile stereognosis allows an awareness of objects and environment otherwise unavailable. The association of hand and eye in humans is so highly developed that visual and hand dominance are usually on the same side of the body, and functional difficulties may result if they are not (Amalric, 1992). In addition to the specific diseases or injuries of the eye or hand, underlying systemic disease may affect either or both of these. There have been excellent reviews of systemic disease in the hand (Berry, 1963; Bradburn et al, 1962) or eye (Ryan and Smith, 1974; Watson and Hazleman, 1976), but much less attention paid to the expression of disease in both. Roberts and colleagues (1990) reviewed a number of conditions affecting both the eye and hand to assist clinical examination by ophthalmologists. This article is intended to raise the awareness of hand surgeons as clinicians to the possibility of eye pathology, emphasizing those diseases which more commonly affect both systems.
carpal tunnel syndrome (15~5% of diabetics, 4-6 x normal incidence), and flexor tenosynovitis (one-fifth of diabetics). Diabetic polyneuropathy was found in twothirds of type I and one-third of type II diabetic patients. Incidence and severity of hand conditions increased with age, duration of disease and presence of retinal microangiopathy. Dupuytren's disease of diabetics is usually mild, often affecting the ring and middle finger (Chammas et al, 1995). Most common in type I diabetes, limited joint motion is associated with thick, tight waxy skin, particularly on the dorsum of the hand (Chammas et al, 1995; Collier et al, 1986; Grgic et al, 1976; Rosenbloom et al, 1981). The joint contracture may be mistaken for juvenile rheumatoid arthritis or scleroderma in younger patients (Grgic et al, 1976), but the thickened skin aids in differential diagnosis. Carpal tunnel syndrome is more common in diabetic men and is closely associated with diabetic polyneuropathy in older patients (Chammas et al, 1995). Microangiopathy of the retina correlates with hand pathology in type I diabetics (Chammas et al, 1995; Rosenbloom et al, 1981). Microaneurysms in ocular capillaries, especially those of the macuta, lead to retinal oedema and lamellar holes. Associated vascular proliferation may cause retinal detachment, haemorrhage, macular oedema and/or glaucoma, resulting in blindness (Frank, 1974). As in the hand, ocular manifestations of diabetes increase with the duration of the disease and represent a significant cause of blindness (Frank, 1974). Retinal angiography can be used to diagnose microvascular pathology which may affect both the retina and the kidney. Both microangiopathy and diabetic cataracts are associated with high levels of oxidized lipids and lipoproteins, which oxidize more easily in the presence of glucose (Deslypere, 1994), Careful monitoring of glucose levels is especially important in these patients, who are at risk from a variety of complications.
SYSTEMIC D I S O R D E R S Endocrine system
Diabetes mellitus Diabetes may be caused by a lack of insulin production (type I, insulin-dependent) or by suppression of insulin receptors on somatic cells (type II, insulin-independent) resulting in elevated serum glucose levels. Type I diabetes usually becomes apparent in childhood and is more strongly associated with hand and eye pathology because of both the severity and duration of the disease. In a case-matched study of diabetics and non-diabetic individuals, Chammas and colleagues (1995) found that diabetics had a significantly higher incidence of Dupuytren's disease (one-third of diabetics; 4 x normal incidence), limited joint motion (one-third of diabetics),
Acromegaly Overproduction of growth hormone caused by a pituitary adenoma results in acromegaly. Patients will report a history of increasing ring size and increased sweating. The hands of a patient with acromegaly become charac293
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teristically spade-like with large broad digits and square fingertips (Berry, 1963). Excess growth hormone results in thickened, weak cartilage and can also cause osteoarthritis of the MCP joints (Feldon and Belsky, 1987). Carpal tunnel syndrome is also a typical feature of acromegaly (Berry, 1963; Levy and Lightman, 1994). Less commonly, the deposition of calcium pyrophosphate dihydrate crystals may cause arthritis as an early symptom of acromegaly (Schumacher, 1996). The growth of a pituitary tumour may cause visual field disturbances and asymmetric field loss (Levy and Lightman, 1994; Roberts et al, 1990). Severe field defects are easily diagnosed by finger movement in the visual periphery, but a more sensitive test is the detection of red colour, which precedes field defects (Watson and Hazleman, 1976). Connective tissue disorders
The connective tissue disorders are caused by autosomal dominant genetic mutations affecting either the structure of collagen and fibritlin molecules or the enzymes responsible for their processing and assembly (Cole, 1993; Prockop et al, 1994). Structural mutations result in either a reduced amount of normal protein or a mixture of normal and mutant proteins, the latter causing the more severe clinical phenotype (Cole, 1993). Phenotypic variation in individuals with the same genetic defect results from underlying stochastic events, interaction with the rest of the genome, or mosaicism (Prockop et al, 1994; Smith, 1994).
Osteogenesis imperfecta Osteogenesis imperfecta (OI) is the most thoroughly studied connective tissue disorder. Over 150 mutations have been found to cause OI, 90% of which are structural mutations of the otl or ~2 chains of collagen I (Cole, 1993; Prockop et al, 1994). This collagen is found in bone, sclera, dentine and ligaments. Homozygous OI generally causes perinatal fatality, while heterozygous expression of the disease results in a variable phenotype. The mildest forms are due to one functionless allele (usually of the collagen I ~xl chain), while more severe forms have both normal and mutant expression of collagen I (Cole, 1993; Prockop et al, 1994). Mild OI (type I) is characterized by blue sclerae, mild bone fragility, premature deafness and normal teeth. The hand is slender and delicate (Berry, 1963). Patients are prone to fractures and have marked joint laxity which may result in frequent dislocations (Watson and Hazleman, 1976). Blue sclerae are immediately obvious, but do not represent a visual impediment or progressive ocular disease. Rather, the blue colour results from a thin scleral coat, through which the choroid is visible. The thin sclera and cornea can withstand normal intraocular pressure, but may rupture with excess pressure (Watson and Hazleman, 1976). Individuals with type IV OI have
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normal sclerae, while the sclerae may gradually become white in type III OI (Smith, 1994).
Marfan's syndrome Classic Marfan's syndrome is caused by a defect on chromosome 15 altering fibrillin production (Cole, 1993; Collod et al, 1994). This defect affects the musculoskeletal, cardiovascular, ocular and pulmonary systems. A second locus on chromosome 3 has been identified in a family exhibiting skeletal and cardiovascular characteristics of Marfan's syndrome, but no ocular signs (Collod et al, 1994), while substitutions in the collagen Iot2 chain have also been found to cause atypical Marfan's syndrome (Kivirikko, 1993). As in other connective tissue disorders, the mild form of Marfan's syndrome is associated with one non-functional allele, while severe phenotypes have production of normal and mutant protein. Arachnodactyly and ligamentous laxity are common signs of Marfan's syndrome (Berry, 1963). Ligamentous laxity may lead to congenital or recurrent joint dislocation. The most common ocular complication of Marfan's syndrome is lens dislocation (ectopia lentis), occurring in 60 to 80% of affected individuals by adult life (Wheatley et al, 1995). If the lens dislocates backwards into the vitreous chamber, secondary glaucoma usually occurs (Watson and Hazleman, 1976). Fibrillin is an important component of the lens capsule, the zonules which anchor the lens and the ciliary processes (Wheatley et al, 1995). Because of the altered fibrillin structure, not only is the lens prone to dislocation, but the iris sphincter and dilator are poorly developed (making pharmacological dilation difficult) and the cornea is flattened (Wheatley et al, 1995). The danger of both joint and lens dislocation means that participation in contact sports should be discouraged in individuals with Marfan's syndrome, while the cardiovascular abnormalities make any excessive physical activity potentially dangerous.
Ehlers-Danlos syndrome Ehlers-Danlos syndrome (EDS) is caused by a number of genetic mutations which affect either the production of collagen I or III, the assembly of procollagen or the processing of procollagen (Cole, 1993; Kivirikko, 1993; Prockop et al, 1994). There are more than 10 subtypes of the disease and considerable variation within each (Kivirikko, 1993). Skeletal features in the hand of a patient with EDS include a large ulnar styloid and acro-osteolyses (Beighton and Horan, 1969; Watt and Hooper, 1987). Patients exhibit fragile, hyperextensible skin and generalized ligamentous laxity. Joint hypermobility may lead to recurrent subluxation or dislocation of the thumb carpometacarpal joint (Moore et al, 1985; Watt and Hooper, 1987) or metacarpophalangeal joint (Kornberg
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THE H A N D A N D T H E EYE
and Aulicino, 1985), or to swan-neck deformity of the digits (Kornberg and Aulicino, 1985). The most common and apparent ocular sign of EDS is the epicanthus, a skin fold over the inner angle of the eye (Yanoff and Fine, 1975). Other ocular symptoms include ectopia lentis, angiod streaks and intraocular haemorrhage secondary to vascular involvement (Yanoff and Fine, 1975). Type VI EDS has the most severe ocular effects and is characterized by fragility of the ocular globe, spontaneous retinal detachment, microcornea and slightly blue sclerae (Kivirikko, 1993). Metabolic disorders
Mucopolysaccharidoses The mucopolysaccharidoses (MPS) are a variety of conditions resulting from abnormal storage of mucopolysaccharides (=glycosaminoglycans). MPS disorders are characterized by a deficiency of lysosomal enzymes, due to an autosomal recessive genetic defect, affecting the breakdown of dermatan sulphate, heparan sulphate, keratan sulphate and chondroitin sulphate (Wraith, 1995). These are deposited in the collagen of tendons, ligaments and joint capsules, leading to thickened soft tissues and contractures. Bone is affected when the MPS stored in collagen alters cartilage or inhibits nucleation of apatite crystals (Fisher et al, 1974). The hand signs of MPS disorders include an in-curved small finger, contractures, carpal tunnel syndrome, delayed and irregular ossification, irregular epiphyses, triggering, joint laxity and flexor tendon nodules (Fisher et al, 1974). Early cases may rarely present as suspected juvenile rheumatoid arthritis because of joint swelling (Fisher et al, 1974). In many patients severe retardation causes limited hand function, but types IS (Sheie), IV (Morquio) and VI (Maroteaux-Lamy) have normal intelligence and can benefit from treatment of hand problems (Fisher et al, 1974; Wraith, 1995). Carpal tunnel syndrome, secondary to thickening of soft tissues, is most common and patients benefit from carpal tunnel release (Fisher et al, 1974; Gschwind and Tonkin, 1992). Flexion contractures of the digits may also warrant treatment. Corneal clouding is common in all forms of MPS except types I1 (Hunter) and III (Sanfilippo) (Bradbury et al, 1989; Fisher et al, 1974). Other ocular signs include retinal degeneration, optic atrophy, ptosis and glaucoma; while tendon and ligament abnormalities may result in a mechanical limitation on eye movements (Bradbury et al, 1989).
Amyloidoses Extracellular deposition of fibrous proteins in a [3pleated configuration (amyloid) in certain tissues causes a group of diseases known as the amyloidoses. Primary amyloidosis may occur in isolation, but there are four familial forms with autosomal dominant inheritance.
Amyloid deposits may also be secondary to a number of conditions including JRA and Reiter's syndrome (see below). The typical presentation of amyloidosis includes stocking and glove peripheral neuropathy, idiopathic carpal tunnel syndrome and amyloid arthritis, a noninflammatory polyarthralgia (Haan and Peters, 1994; Lamkin and Jakobiec, 1994). Carpal tunnel syndrome is caused by amyloid deposition in periarticular tissue or the flexor retinaculum of the wrist (Haan and Peters, 1994). Periarticular amyloid deposition is also responsible for painful, stiff joints. Amyloid polyneuropathy occurs first in the lower limb, then the upper, with sensory and motor signs suggestive of axonal degeneration. Familial forms are due to variations in transthyretin (prealbumin), leading to either upper or lower limb polyneuropathy, with idiopathic CTS also occurring in the upper limb form (Haan and Peters, 1994). Amyloid deposits in the eyelids form haemorrhagic waxy papules, which are almost always associated with systemic amyloid disease (Lamkin and Jakobiec, 1994). Corneal dystrophy is a common ocular sign of amyloidosis and may have either a droplike or a lattice appearance (Lamkin and Jakobiec, 1994). Other ocular complications include tonic pupil, ptosis, keratoconjunctivitis sicca and amyloid glaucoma.
Gout The onset of gout typically occurs in the fifth decade, with men more commonly affected than women. Acute attacks of gouty arthritis are typical in men, while women may present with insidious polyarthritis. Although traditionally occurring first in the foot, approximately 30% of first attacks are elsewhere and most sufferers have occasional acute attacks (Snaith, t995). The trigger for acute gouty arthritis attacks is unknown, although stress seems to be a common factor. Monosodium urate crystals are present and being actively phagocytized even during asymptomatic periods (Pascual and Jovani, 1995). Hand involvement in gout is more common in women and may be associated with osteoarthritis (Wernick et al, 1992). Approximately half of all gout sufferers have deposition in the metacarpophalangeal or phalangeal joints of the hand (Berry, 1963). In untreated cases, tophi eventually form, leading to ulceration and a discharging sinus (Berry, 1963; Wernick et al, 1992). Urate crystals precipitate inflammation in the eye. The unusual combination of conjunctivitis and episcleritis is characteristic of gout, while scleritis, uveitis and crystalline keratopathy are less common (Watson and Hazleman, 1976). Inflammatory and rheumatic arthritidies
Once lumped together under the general category of "rheumatoid arthritidies," there are a number of
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inflammatory conditions including systemic lupus erythematosis, juvenile rheumatoid arthritis, psoriatic arthritis and Reiter's syndrome. The last two of these fall into the general category of spondyloarthropathies. Once dependent upon careful clinical observation over time, diagnosis of these conditions has been simplified by the identification of three characteristic serum antibodies or factors: rheumatoid factor (RF); antinuclear antibodies (ANA); and human leucocyte antigen locus B27 (HLA-B27). These inflammatory conditions are commonly accompanied by ocular disease (often asymptomatic) which may lead to blindness if unrecognized.
Juvenile rheumatoid arthritis There are three typical presentations of juvenile rheumatoid arthritis (JRA) - acute illness with fever (Still's disease), polyarticular onset (similar to adult RA) or mono-/oligoarticular onset, While the articular involvement is like that in adult RA, ocular signs are a hallmark of JRA (Ryan, 1974). The cause of articular and ocular signs may be related to collagen II (found in articular cartilage and the vitreous portion of the eye) or to a proteoglycan (Petty, 1990). Mono- or oligoarticular onset of JRA is commonly associated with chronic anterior uveitis. Asymptomatic in 50% of cases, untreated chronic anterior uveitis may result in band keratopathy, glaucoma, cataracts and blindness (Michels, 1974; O'Brien et al, 1994; Petty, 1990). Polyarticular onset is also associated with chronic anterior uveitis and scleritis (Petty, 1990). Articular and ocular inflammation are not temporally related, so regular eye examination is essential for children with JRA (O'Brien et al, 1994).
Systemic lupus erythematosis Systemic lupus erythematosis (SLE) is a multisystem inflammatory disease caused by an immune response against nucleosomes. Antinuclear antibodies (ANA) are found in 88% of SLE sufferers and they correlate with disease severity (Tax et al, 1995). Women are most commonly affected, with a higher incidence of disease among blacks and Chinese. The vast majority (90%) of patients with SLE have polyarthralgia/arthritis, especially in the interphalangeal, metacarpophalangeal and wrist joints (Stevens and Zizic, 1974). Other common features include a rash on the hands and skin lesions, especially periungual erythema (Berry, 1963; Stevens and Zizic, 1974). The characteristic butterfly rash of lupus may be present on the patient's face. Ocular symptoms include discoid lesions on the eye lid, keratoconjunctivitis sicca, conjunctival scarring, photophobia and retinal vasculitidies (Michels, 1974; Petty, 1990; Reddy and Foster, 1994). These may precede diagnosable SLE, and patients with SLE who develop ocular inflammatory problems
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are at high risk for extraocular manifestations (Reddy and Foster, 1994).
Reiter's syndrome Reiter's syndrome (RS) is characterized by urethritis, conjunctivitis and arthritis. The diagnosis may be overlooked if all three features do not occur concurrently. Traditionally thought to be venereal in origin, current research suggests that RS may be caused by both sexually transmitted (Chlamydia, Mycoplasma) and enteric organisms (Shigella, Salmonella, Campylobacter, Yersinia) (Hay, 1991; Hughes and Keat, 1994). Postvenereal RS is more common than postdysenteric disease, and Chlamydia infection is associated with approximately 70% of cases (Rahman et al, 1992). The higher reported incidence of RS in men may be because subclinical venereal infections in women may not be associated with urethritis (Hay, 1991; Rahman et al, 1992). Most patients have one or more recurrences of RS. Evidence suggests that bacterial particles persist in the synovium and possibly in the gut tissue or lymph nodes (Rahman et al, 1992). HLA-B27 is found in more than 90% of RS patients, and the use of long-term antibiotics to eradicate the underlying infection may be effective in these individuals (Hughes and Keat, 1994; Rahman et al, 1992). Bed rest and anti-rheumatic drugs are ineffective (Hawkes, 1973). Sudden arthritis of the lower limb and back commonly causes RS patients to seek treatment, but dactylitis is very frequent and an important diagnostic feature (Azouz and Duffy, 1995; Hawkes, 1973). Other signs in the hand include tenosynovitis, hyperkeratosis and nail changes (Azouz and Duffy, 1995; Berry, 1963). The ocular manifestations of RS can easily be overlooked, as they sometimes precede the arthritis and resolve spontaneously. Bilateral conjunctivitis is common, as is acute anterior uveitis (Michels, 1974; Petty, 1990). Keratitis and episcleritis occur rarely and are usually mild (Michels, 1974).
Psoriatic arthritis Psoriatic arthritis (PA), like RS, is a spondyloarthropathy associated with HLA-B27. ANA is found occasionally and is associated with more severe and earlier onset pauciarticular arthritis (O'Brien et al, 1994). The relative onsets of the psoriatic rash and the arthritis varies in children and adults, the rash appearing before arthritis in adults and the opposite in children. Juvenile PA may be difficult to distinguish from JRA, with nail pitting and a family history of psoriasis being clues to the presence of PA. The hand is affected more extensively in PA than in any of the other inflammatory/rheumatic arthritidies. In addition to psoriasis on the hand, the nails become thick, irregular and pitted (Azouz and Duffy, 1995; Zizic and
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Table 1--Systemic disorders which may present with bilateral carpal tunnel syndrome
Systemic disorder
Associated ocular disease
Acromegaly Amyloidoses
Visual field disturbance Waxy papules on eyelids, corneal dystrophy, ptosis, keratoconjunctivitis sicca, amyloid glaucoma Corneal clouding, retinal degeneration, ptosis, strabismus, glaucoma Retinopathy, cataract, ocular palsies, optic atrophy, iris changes
Mucopolysaccharidoses Diabetes mellitus
Table 2~-Systemic disorders which are associated with joint hypermobility
Systemic disorder
Associated ocular disease
Marfan's syndrome
Lens dislocation, retinal detachment, glaucoma, syringoma Epicanthus, hypertelorism, syringoma Blue sclerae Corneal clouding, etc (see Table 1)
Ehlers-Danlos syndrome Osteogenesis imperfecta Mucopolysaccharidoses
Table 3~Systemic disorders which may cause arthritis in the hand and wrist
Systemic disorder
Associated ocular disease
Amyloidoses Gout Juvenile rheumatoid arthritis
Eyelid deposits, etc (see Table 1) Episcleritis, scleritis, crystalline keratopathy Chronic anterior uveitis (may progress to band keratopathy, cataracts and glaucoma) Conjunctivitis, acute anterior uveitis Conjunctivitis, acute anterior uveitis Keratoconjunctivitis sicca, retinopathy (cotton-wool spots), other ocular inflammations
Reiter's disease Psoriatic arthritis Systemic lupus erythematosus
Stevens, 1974). DIP joint swelling is common and inflammation of the flexor tendon sheath leads to the characteristic "sausage digit". Arthritis is typically asymmetric, affecting large and small joints (Azouz and Duffy, 1995). Chronic anterior uveitis is associated with PA, but less common than in cases of JRA (Azouz and Duffy, 1995; Petty, 1990). Episcleritis and conjunctivitis also occur with PA. Iridocyclitis is present in most individuals that are ANA positive (O'Brien et al, 1994). Because of the risk of blindness from undiagnosed uveitis (see above), patients with PA should have regular visual checks. EYE EXAMINATION FOR THE HAND SURGEON
Whilst confirmation and treatment of serious eye disorders should be done by an ophthalmologist, many of the ocular symptoms described above can be observed in normal daylight. All of these systemic diseases may have one or more of three common hand presentations: bilateral carpal tunnel syndrome (Table 1), joint hypermobility (Table 2) or arthritis (Table 3). Associated ocular signs can aid greatly in diagnosis.
The most obvious conditions which can be noted while speaking with a patient are malar butterfly rash (SLE), eyelid papules (amyloidosis), conjunctivitis (Reiter's syndrome, psoriatic arthritis, gout), ptosis (MPS disorders), epicanthus (EDS) and blue sclerae (osteogenesis imperfecta). Closer examination of the eye will allow one to observe corneal clouding (MPS disorders). Questions about discomfort in the eyes, coupled with close observation allow one to distinguish between scleritis (severe pain, deep purple sclera), episcleritis (discomfort, dry eyes, salmon pink colour) and keratoconjunctivitis sicca (dry, gritty eyes with conjunctivitis) (Watson and Hazleman, 1976). If the patient has noted a reduction in visual acuity or field, diabetes or acromegaly might be suspected. DISCUSSION Many of the ocular signs described here may be easily observed without special equipment. An awareness of the association between systematic disease and eye and hand conditions can assist in the diagnosis of an underlying pathology or in assessing its severity. Prompt
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recognition and treatment of systemic diseases and/or associated ocular conditions is enormously important for a patient's continued health and quality of life. Acknowledgements The authors would like to thank Drs T.V. Roberts, I.C. Francis, A.H. Lipson, M.B. Kappagoka, S.S. Zagarella and M.A. Hooper for assistance in preparation of the manuscript.
References Amalric R The hand needs the eye. In: Merle M, Destrez C (Eds): The hand: art and science, Paris, Chine, 1992: 3442. Azouz EM, Duffy CM (1995). Juvenile spondyloarthropathies: clinical manifestations and medical imaging. Skeletal Radiology, 24: 399408. Beighton P, Horan F (1969). Orthopaedic aspects of the Ehlers-Danlos syndrome. Journal of Bone and Joint Surgery, 51B: 444453. Berry TJ. The hand as a mirror o f systemic disease, Philadelphia, FA Davis, 1963: 215. Bradburn HB, Chase RA, Fessel JM (1962). The hand in systemic disease. Journal of Bone and Joint Surgery, 44A: 1395-1411. Bradbury JA, Martin L, Strachan IM (1989). Acquired Brown's syndrome associated with Hurle~Scheie's syndrome. British Journal of Ophthalmology, 73: 305-308. Chammas M, Bousquet P, Renard E, Poirier JL, Jaffiol C, Allieu Y (1995). Dupuytren's disease, carpal tunnel syndrome, trigger finger, and diabetes mellitus. Journal of Hand Surgery, 20A: 109-114. Cole WG (1993). Genetics of connective tissue disease. Medical Journal of Australia, 158:678 680. Collier A, Matthews DM, Kellett HA, Clarke BF, Hunter JA (1986). Change in skin thickness associated with cheiroarthropathy in insulin dependent diabetes mellitus. British Medical Journal, 292: 936. Collod G, Babron MC, Jondeau G e t al (1994). A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nature Genetics, 8: 264-268. Deslypere J-P (1994). Modified lipoproteins in diabetes. Journal of Internal Medicine, 236 (Suppl 736): 69-74. Feldon R Belsky MR (1987). Degenerative diseases of the metacarpophalangeal joints. Hand Clinics, 3: 429445. Fisher RC, Homer RL, Wood VE (1974). The hand in mucopolysaccharide disorders. Clinical Orthopaedics and Related Research, 104: 191-199. Frank RN. Diabetic retinopathy. In: Ryan SJ, Smith RE (Eds): Selected topics on the eye in systemic disease, New York, Grune and Stratton, 1974: 65-I 18. Grgic A, Rosenbloom AL, Weber T, Giordano B, Malone JI, Shuster JJ (1976). Joint contracture--common manifestation of childhood diabetes mellitus. Journal of Pediatrics, 88: 584-588. Gschwind C, Tonkin MA (1992). Carpal tunnel syndrome in children with mucopolysaccharidosis and related disorders. Journal of Hand Surgery, 17A: 4447. Haan J, Peters WG (1994). AmyIoid and peripheral nervous system disease. Clinical Neurology and Neurosurgery, 96: I-9. Hawkes JG (1973). Clinical and diagnostic features of Reiter's disease: a followup study of 39 patients. New Zealand Medical Journal, 78: 34%353. Hay EM (1991). Reiter's syndrome and reactive arthritis. British Journal of Rheumatology, 30: 474475. Hughes RA, Keat AC (1994). Reiter's syndrome and reactive arthritis: a current view. Seminars in Arthritis and Rheumatism, 24:19~210. Kivirikko KI (1993). Collagens and their abnormalities in a wide spectrum of diseases. Annals of Medicine, 25:113 126. Kornberg M, Aulicino PL (1985). Hand and wrist joint problems in patients with Ehlers- Danlos syndrome. Journal of Hand Surgery, 10A: 193-196. Lamkin JC, Jakobiec FA. Amyloidosis and the eye. In: Albert DM, Jakobiec FA (Eds): Principles and practice o f ophthalmology: clinical practice, Philadelphia, WB Saunders Company, 1994, Vol. 5: 2956-2975. Levy A, Lightman SL (1994). Diagnosis and management of pituitary tumours. British Medical Journal, 308: 108%1091. Michels RG. Ocular manifestations in arthritis. In: Ryan SJ, Smith RE (Eds):
THE JOURNAL OF HAND SURGERY VOL. 22B No. 3 JUNE 1997 Selected topics on the eye in systemic disease, New York, Grune and Stratton, 1974: 363-377. Moore JR, Tolo VT, Weiland AJ (1985). Painful subluxation of the carpometacarpal joint of the thumb in Ehlers-Danlos syndrome. Journal of Hand Surgery, 10A: 661 663. O'Brien JM, Albert DM, Foster CS. Juvenile rheumatoid arthritis. In: Albert DM, Jakobiec FA (Eds): Principles and practice ~?f ophthalmology." cliniealpractice, Philadelphia, WB Saunders, 1994, Vol. 5: 2873~887. Paschal E, Jovani V (1995). A quantitative study of the phagocytosis of urate crystals in the synovial fluid of asymptomatic joints of patients with gout. British Journal of Rheumatology, 34: 724-726. Petty RE (1990). Ocular complications of rheumatic diseases of childhood. Clinical Orthopaedics and Related Research, 259: 51-57. Prockop DJ, Kuivaniemi H, Tromp G (1994). Molecular basis of osteogenesis imperfecta and related disorders of bone. Clinics in Plastic Surgery, 21: 4 0 7 4 13. Rahman MU, Schumacher HR, Hudson AP (1992). Recurrent arthritis in Reiter's syndrome: a function of inapparent chlamydial infection of the synovium? Seminars in Arthritis and Rheumatism, 21: 259-266. Reddy CV, Foster CS. Systemic lupus erythematosis. In: Albert DM, Jakobiec FA (Eds): Principles and practiee of ophthalmology: clinical practice, Philadelphia, WB Saunders, 1994, Vol. 5: 2894-2901. Roberts TV, Francis IC, Lipson AH, et al (1990). The eye and the hand: a clinical review. Australia and New Zealand Journal of Ophthalmology, 18: 287-298. Rosenbloom AL, Silverstein JH, Lezotte DC, Richardson K, McCallum M (1981). Limited joint mobility in childhood diabetes mellitus indicates increased risk for microvascular disease. New England Journal of Medicine, 305: 191-194. Ryan SJ. Introduction to rheumatic disease, in: Ryan SJ, Smith RE (Eds): Selected topics on the eye in systemic disease, New York, Grune and Stratton, 1974: 277-278. Ryan SJ, Smith RE (Eds): Selected topics on the eye in systemic" disease, New York, Grune and Stratton, 1974. Schumacher HR (1996). Crystal-induced arthritis: an overview. American Journal of Medicine, 100 (Suppl 2A): 46S-52S. Smith R (1994). Osteogenesis imperfecta: from phenotype to genotype and back again. International Journal of Experimental Pathology, 75: 233-241. Snaith ML (1995). Gout, hyperuricaemia, and crystal arthritis. British Medical Journal, 310:521 524. Stevens MB, Zizic TM. Systemic aspects of connective tissue disorders, in: Ryan SJ, Smith RE (Eds): Selected topics' on the eye in systemic disease, New York, Grune and Stratton, 1974:279 300. Tax WJM, Kramers C, Van Bruggen MCJ, Berden JHM (1995). Apoptosis, nucleosomes, and nephritis in systemic lupus erythematosus. Kidney International, 48:666 673. Watson PG, Hazleman BL. The sclera and systemie disorders, London, WB Saunders, 1976: 458. Watt NAR, Hooper G (1987). Skeletal changes in the hand in the Ehler~Danlos syndrome. Journal of Hand Surgery, 12B: 394-395. Wernick R, Winkler C, Campbell S (1992). Tophi as the initial manifestation of gout. Archives of Internal Medicine, 152:873 876. Wheatley HM, Traboulsi EI, Flowers BE, et ai (1995). Immunohistochemical localization of fibrillin in human ocular tissues: relevance to the Marfan syndrome. Archives of Ophthalmology, 113: 103-109. Wraith JE (1995). The mucopolysaccharidoses: a clinical review and guide to management. Archives of Disease in Childhood, 72: 263-267. Yanoff M, Fine BS. Ocular pathology: a text and atlas, Hagerstown Maryland, Harper and Row, 1975: 747. Zizic TM, Stevens MB. Ankylosing spondylitis and variants. In: Ryan SJ, Smith RE (Eds): Selected topics on the eye in systemic disease, New York, Grune and Stratton, 1974: 339-36I.
Dr M. A. Tonkin, Department of Hand Surgery,Royal North Shore Hospital, St Leonards NSW 2065, Australia. © 1997The British Societyfor Surgeryof the Hand
AND THE EYE
S. L. FILAN, K. M. RUMBALL and M. A. TONKIN
From the Department of Hand Surgery, Royal North Shore Hospital, Sydney, Australia A variety of systemic diseases may affect both the hand and eye, leading to profound sensory and functional deficits. The aetiology of some of the most common conditions is reviewed, with an explanation of their manifestations in the hand and eye. Recognition of the association between a hand condition and ocular pathology may aid in diagnosis of a systemic disorder or allow early detection and prevention of ocular disease and loss of vision.
Journal of Hand Surgery (British and European Volume, 1997) 22B: 3:293-298 The hands are the eyes of the blind, therefore it is all the more important to recognize the impact of visual impairment while assessing hand dysfunction. When hand sensibility is poor (for example in cerebral palsy, spinal injuries, peripheral nerve disorders) ocular vision provides stereognosis necessary for hand function. Conversely, in the visually impaired, tactile stereognosis allows an awareness of objects and environment otherwise unavailable. The association of hand and eye in humans is so highly developed that visual and hand dominance are usually on the same side of the body, and functional difficulties may result if they are not (Amalric, 1992). In addition to the specific diseases or injuries of the eye or hand, underlying systemic disease may affect either or both of these. There have been excellent reviews of systemic disease in the hand (Berry, 1963; Bradburn et al, 1962) or eye (Ryan and Smith, 1974; Watson and Hazleman, 1976), but much less attention paid to the expression of disease in both. Roberts and colleagues (1990) reviewed a number of conditions affecting both the eye and hand to assist clinical examination by ophthalmologists. This article is intended to raise the awareness of hand surgeons as clinicians to the possibility of eye pathology, emphasizing those diseases which more commonly affect both systems.
carpal tunnel syndrome (15~5% of diabetics, 4-6 x normal incidence), and flexor tenosynovitis (one-fifth of diabetics). Diabetic polyneuropathy was found in twothirds of type I and one-third of type II diabetic patients. Incidence and severity of hand conditions increased with age, duration of disease and presence of retinal microangiopathy. Dupuytren's disease of diabetics is usually mild, often affecting the ring and middle finger (Chammas et al, 1995). Most common in type I diabetes, limited joint motion is associated with thick, tight waxy skin, particularly on the dorsum of the hand (Chammas et al, 1995; Collier et al, 1986; Grgic et al, 1976; Rosenbloom et al, 1981). The joint contracture may be mistaken for juvenile rheumatoid arthritis or scleroderma in younger patients (Grgic et al, 1976), but the thickened skin aids in differential diagnosis. Carpal tunnel syndrome is more common in diabetic men and is closely associated with diabetic polyneuropathy in older patients (Chammas et al, 1995). Microangiopathy of the retina correlates with hand pathology in type I diabetics (Chammas et al, 1995; Rosenbloom et al, 1981). Microaneurysms in ocular capillaries, especially those of the macuta, lead to retinal oedema and lamellar holes. Associated vascular proliferation may cause retinal detachment, haemorrhage, macular oedema and/or glaucoma, resulting in blindness (Frank, 1974). As in the hand, ocular manifestations of diabetes increase with the duration of the disease and represent a significant cause of blindness (Frank, 1974). Retinal angiography can be used to diagnose microvascular pathology which may affect both the retina and the kidney. Both microangiopathy and diabetic cataracts are associated with high levels of oxidized lipids and lipoproteins, which oxidize more easily in the presence of glucose (Deslypere, 1994), Careful monitoring of glucose levels is especially important in these patients, who are at risk from a variety of complications.
SYSTEMIC D I S O R D E R S Endocrine system
Diabetes mellitus Diabetes may be caused by a lack of insulin production (type I, insulin-dependent) or by suppression of insulin receptors on somatic cells (type II, insulin-independent) resulting in elevated serum glucose levels. Type I diabetes usually becomes apparent in childhood and is more strongly associated with hand and eye pathology because of both the severity and duration of the disease. In a case-matched study of diabetics and non-diabetic individuals, Chammas and colleagues (1995) found that diabetics had a significantly higher incidence of Dupuytren's disease (one-third of diabetics; 4 x normal incidence), limited joint motion (one-third of diabetics),
Acromegaly Overproduction of growth hormone caused by a pituitary adenoma results in acromegaly. Patients will report a history of increasing ring size and increased sweating. The hands of a patient with acromegaly become charac293
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teristically spade-like with large broad digits and square fingertips (Berry, 1963). Excess growth hormone results in thickened, weak cartilage and can also cause osteoarthritis of the MCP joints (Feldon and Belsky, 1987). Carpal tunnel syndrome is also a typical feature of acromegaly (Berry, 1963; Levy and Lightman, 1994). Less commonly, the deposition of calcium pyrophosphate dihydrate crystals may cause arthritis as an early symptom of acromegaly (Schumacher, 1996). The growth of a pituitary tumour may cause visual field disturbances and asymmetric field loss (Levy and Lightman, 1994; Roberts et al, 1990). Severe field defects are easily diagnosed by finger movement in the visual periphery, but a more sensitive test is the detection of red colour, which precedes field defects (Watson and Hazleman, 1976). Connective tissue disorders
The connective tissue disorders are caused by autosomal dominant genetic mutations affecting either the structure of collagen and fibritlin molecules or the enzymes responsible for their processing and assembly (Cole, 1993; Prockop et al, 1994). Structural mutations result in either a reduced amount of normal protein or a mixture of normal and mutant proteins, the latter causing the more severe clinical phenotype (Cole, 1993). Phenotypic variation in individuals with the same genetic defect results from underlying stochastic events, interaction with the rest of the genome, or mosaicism (Prockop et al, 1994; Smith, 1994).
Osteogenesis imperfecta Osteogenesis imperfecta (OI) is the most thoroughly studied connective tissue disorder. Over 150 mutations have been found to cause OI, 90% of which are structural mutations of the otl or ~2 chains of collagen I (Cole, 1993; Prockop et al, 1994). This collagen is found in bone, sclera, dentine and ligaments. Homozygous OI generally causes perinatal fatality, while heterozygous expression of the disease results in a variable phenotype. The mildest forms are due to one functionless allele (usually of the collagen I ~xl chain), while more severe forms have both normal and mutant expression of collagen I (Cole, 1993; Prockop et al, 1994). Mild OI (type I) is characterized by blue sclerae, mild bone fragility, premature deafness and normal teeth. The hand is slender and delicate (Berry, 1963). Patients are prone to fractures and have marked joint laxity which may result in frequent dislocations (Watson and Hazleman, 1976). Blue sclerae are immediately obvious, but do not represent a visual impediment or progressive ocular disease. Rather, the blue colour results from a thin scleral coat, through which the choroid is visible. The thin sclera and cornea can withstand normal intraocular pressure, but may rupture with excess pressure (Watson and Hazleman, 1976). Individuals with type IV OI have
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normal sclerae, while the sclerae may gradually become white in type III OI (Smith, 1994).
Marfan's syndrome Classic Marfan's syndrome is caused by a defect on chromosome 15 altering fibrillin production (Cole, 1993; Collod et al, 1994). This defect affects the musculoskeletal, cardiovascular, ocular and pulmonary systems. A second locus on chromosome 3 has been identified in a family exhibiting skeletal and cardiovascular characteristics of Marfan's syndrome, but no ocular signs (Collod et al, 1994), while substitutions in the collagen Iot2 chain have also been found to cause atypical Marfan's syndrome (Kivirikko, 1993). As in other connective tissue disorders, the mild form of Marfan's syndrome is associated with one non-functional allele, while severe phenotypes have production of normal and mutant protein. Arachnodactyly and ligamentous laxity are common signs of Marfan's syndrome (Berry, 1963). Ligamentous laxity may lead to congenital or recurrent joint dislocation. The most common ocular complication of Marfan's syndrome is lens dislocation (ectopia lentis), occurring in 60 to 80% of affected individuals by adult life (Wheatley et al, 1995). If the lens dislocates backwards into the vitreous chamber, secondary glaucoma usually occurs (Watson and Hazleman, 1976). Fibrillin is an important component of the lens capsule, the zonules which anchor the lens and the ciliary processes (Wheatley et al, 1995). Because of the altered fibrillin structure, not only is the lens prone to dislocation, but the iris sphincter and dilator are poorly developed (making pharmacological dilation difficult) and the cornea is flattened (Wheatley et al, 1995). The danger of both joint and lens dislocation means that participation in contact sports should be discouraged in individuals with Marfan's syndrome, while the cardiovascular abnormalities make any excessive physical activity potentially dangerous.
Ehlers-Danlos syndrome Ehlers-Danlos syndrome (EDS) is caused by a number of genetic mutations which affect either the production of collagen I or III, the assembly of procollagen or the processing of procollagen (Cole, 1993; Kivirikko, 1993; Prockop et al, 1994). There are more than 10 subtypes of the disease and considerable variation within each (Kivirikko, 1993). Skeletal features in the hand of a patient with EDS include a large ulnar styloid and acro-osteolyses (Beighton and Horan, 1969; Watt and Hooper, 1987). Patients exhibit fragile, hyperextensible skin and generalized ligamentous laxity. Joint hypermobility may lead to recurrent subluxation or dislocation of the thumb carpometacarpal joint (Moore et al, 1985; Watt and Hooper, 1987) or metacarpophalangeal joint (Kornberg
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THE H A N D A N D T H E EYE
and Aulicino, 1985), or to swan-neck deformity of the digits (Kornberg and Aulicino, 1985). The most common and apparent ocular sign of EDS is the epicanthus, a skin fold over the inner angle of the eye (Yanoff and Fine, 1975). Other ocular symptoms include ectopia lentis, angiod streaks and intraocular haemorrhage secondary to vascular involvement (Yanoff and Fine, 1975). Type VI EDS has the most severe ocular effects and is characterized by fragility of the ocular globe, spontaneous retinal detachment, microcornea and slightly blue sclerae (Kivirikko, 1993). Metabolic disorders
Mucopolysaccharidoses The mucopolysaccharidoses (MPS) are a variety of conditions resulting from abnormal storage of mucopolysaccharides (=glycosaminoglycans). MPS disorders are characterized by a deficiency of lysosomal enzymes, due to an autosomal recessive genetic defect, affecting the breakdown of dermatan sulphate, heparan sulphate, keratan sulphate and chondroitin sulphate (Wraith, 1995). These are deposited in the collagen of tendons, ligaments and joint capsules, leading to thickened soft tissues and contractures. Bone is affected when the MPS stored in collagen alters cartilage or inhibits nucleation of apatite crystals (Fisher et al, 1974). The hand signs of MPS disorders include an in-curved small finger, contractures, carpal tunnel syndrome, delayed and irregular ossification, irregular epiphyses, triggering, joint laxity and flexor tendon nodules (Fisher et al, 1974). Early cases may rarely present as suspected juvenile rheumatoid arthritis because of joint swelling (Fisher et al, 1974). In many patients severe retardation causes limited hand function, but types IS (Sheie), IV (Morquio) and VI (Maroteaux-Lamy) have normal intelligence and can benefit from treatment of hand problems (Fisher et al, 1974; Wraith, 1995). Carpal tunnel syndrome, secondary to thickening of soft tissues, is most common and patients benefit from carpal tunnel release (Fisher et al, 1974; Gschwind and Tonkin, 1992). Flexion contractures of the digits may also warrant treatment. Corneal clouding is common in all forms of MPS except types I1 (Hunter) and III (Sanfilippo) (Bradbury et al, 1989; Fisher et al, 1974). Other ocular signs include retinal degeneration, optic atrophy, ptosis and glaucoma; while tendon and ligament abnormalities may result in a mechanical limitation on eye movements (Bradbury et al, 1989).
Amyloidoses Extracellular deposition of fibrous proteins in a [3pleated configuration (amyloid) in certain tissues causes a group of diseases known as the amyloidoses. Primary amyloidosis may occur in isolation, but there are four familial forms with autosomal dominant inheritance.
Amyloid deposits may also be secondary to a number of conditions including JRA and Reiter's syndrome (see below). The typical presentation of amyloidosis includes stocking and glove peripheral neuropathy, idiopathic carpal tunnel syndrome and amyloid arthritis, a noninflammatory polyarthralgia (Haan and Peters, 1994; Lamkin and Jakobiec, 1994). Carpal tunnel syndrome is caused by amyloid deposition in periarticular tissue or the flexor retinaculum of the wrist (Haan and Peters, 1994). Periarticular amyloid deposition is also responsible for painful, stiff joints. Amyloid polyneuropathy occurs first in the lower limb, then the upper, with sensory and motor signs suggestive of axonal degeneration. Familial forms are due to variations in transthyretin (prealbumin), leading to either upper or lower limb polyneuropathy, with idiopathic CTS also occurring in the upper limb form (Haan and Peters, 1994). Amyloid deposits in the eyelids form haemorrhagic waxy papules, which are almost always associated with systemic amyloid disease (Lamkin and Jakobiec, 1994). Corneal dystrophy is a common ocular sign of amyloidosis and may have either a droplike or a lattice appearance (Lamkin and Jakobiec, 1994). Other ocular complications include tonic pupil, ptosis, keratoconjunctivitis sicca and amyloid glaucoma.
Gout The onset of gout typically occurs in the fifth decade, with men more commonly affected than women. Acute attacks of gouty arthritis are typical in men, while women may present with insidious polyarthritis. Although traditionally occurring first in the foot, approximately 30% of first attacks are elsewhere and most sufferers have occasional acute attacks (Snaith, t995). The trigger for acute gouty arthritis attacks is unknown, although stress seems to be a common factor. Monosodium urate crystals are present and being actively phagocytized even during asymptomatic periods (Pascual and Jovani, 1995). Hand involvement in gout is more common in women and may be associated with osteoarthritis (Wernick et al, 1992). Approximately half of all gout sufferers have deposition in the metacarpophalangeal or phalangeal joints of the hand (Berry, 1963). In untreated cases, tophi eventually form, leading to ulceration and a discharging sinus (Berry, 1963; Wernick et al, 1992). Urate crystals precipitate inflammation in the eye. The unusual combination of conjunctivitis and episcleritis is characteristic of gout, while scleritis, uveitis and crystalline keratopathy are less common (Watson and Hazleman, 1976). Inflammatory and rheumatic arthritidies
Once lumped together under the general category of "rheumatoid arthritidies," there are a number of
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inflammatory conditions including systemic lupus erythematosis, juvenile rheumatoid arthritis, psoriatic arthritis and Reiter's syndrome. The last two of these fall into the general category of spondyloarthropathies. Once dependent upon careful clinical observation over time, diagnosis of these conditions has been simplified by the identification of three characteristic serum antibodies or factors: rheumatoid factor (RF); antinuclear antibodies (ANA); and human leucocyte antigen locus B27 (HLA-B27). These inflammatory conditions are commonly accompanied by ocular disease (often asymptomatic) which may lead to blindness if unrecognized.
Juvenile rheumatoid arthritis There are three typical presentations of juvenile rheumatoid arthritis (JRA) - acute illness with fever (Still's disease), polyarticular onset (similar to adult RA) or mono-/oligoarticular onset, While the articular involvement is like that in adult RA, ocular signs are a hallmark of JRA (Ryan, 1974). The cause of articular and ocular signs may be related to collagen II (found in articular cartilage and the vitreous portion of the eye) or to a proteoglycan (Petty, 1990). Mono- or oligoarticular onset of JRA is commonly associated with chronic anterior uveitis. Asymptomatic in 50% of cases, untreated chronic anterior uveitis may result in band keratopathy, glaucoma, cataracts and blindness (Michels, 1974; O'Brien et al, 1994; Petty, 1990). Polyarticular onset is also associated with chronic anterior uveitis and scleritis (Petty, 1990). Articular and ocular inflammation are not temporally related, so regular eye examination is essential for children with JRA (O'Brien et al, 1994).
Systemic lupus erythematosis Systemic lupus erythematosis (SLE) is a multisystem inflammatory disease caused by an immune response against nucleosomes. Antinuclear antibodies (ANA) are found in 88% of SLE sufferers and they correlate with disease severity (Tax et al, 1995). Women are most commonly affected, with a higher incidence of disease among blacks and Chinese. The vast majority (90%) of patients with SLE have polyarthralgia/arthritis, especially in the interphalangeal, metacarpophalangeal and wrist joints (Stevens and Zizic, 1974). Other common features include a rash on the hands and skin lesions, especially periungual erythema (Berry, 1963; Stevens and Zizic, 1974). The characteristic butterfly rash of lupus may be present on the patient's face. Ocular symptoms include discoid lesions on the eye lid, keratoconjunctivitis sicca, conjunctival scarring, photophobia and retinal vasculitidies (Michels, 1974; Petty, 1990; Reddy and Foster, 1994). These may precede diagnosable SLE, and patients with SLE who develop ocular inflammatory problems
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are at high risk for extraocular manifestations (Reddy and Foster, 1994).
Reiter's syndrome Reiter's syndrome (RS) is characterized by urethritis, conjunctivitis and arthritis. The diagnosis may be overlooked if all three features do not occur concurrently. Traditionally thought to be venereal in origin, current research suggests that RS may be caused by both sexually transmitted (Chlamydia, Mycoplasma) and enteric organisms (Shigella, Salmonella, Campylobacter, Yersinia) (Hay, 1991; Hughes and Keat, 1994). Postvenereal RS is more common than postdysenteric disease, and Chlamydia infection is associated with approximately 70% of cases (Rahman et al, 1992). The higher reported incidence of RS in men may be because subclinical venereal infections in women may not be associated with urethritis (Hay, 1991; Rahman et al, 1992). Most patients have one or more recurrences of RS. Evidence suggests that bacterial particles persist in the synovium and possibly in the gut tissue or lymph nodes (Rahman et al, 1992). HLA-B27 is found in more than 90% of RS patients, and the use of long-term antibiotics to eradicate the underlying infection may be effective in these individuals (Hughes and Keat, 1994; Rahman et al, 1992). Bed rest and anti-rheumatic drugs are ineffective (Hawkes, 1973). Sudden arthritis of the lower limb and back commonly causes RS patients to seek treatment, but dactylitis is very frequent and an important diagnostic feature (Azouz and Duffy, 1995; Hawkes, 1973). Other signs in the hand include tenosynovitis, hyperkeratosis and nail changes (Azouz and Duffy, 1995; Berry, 1963). The ocular manifestations of RS can easily be overlooked, as they sometimes precede the arthritis and resolve spontaneously. Bilateral conjunctivitis is common, as is acute anterior uveitis (Michels, 1974; Petty, 1990). Keratitis and episcleritis occur rarely and are usually mild (Michels, 1974).
Psoriatic arthritis Psoriatic arthritis (PA), like RS, is a spondyloarthropathy associated with HLA-B27. ANA is found occasionally and is associated with more severe and earlier onset pauciarticular arthritis (O'Brien et al, 1994). The relative onsets of the psoriatic rash and the arthritis varies in children and adults, the rash appearing before arthritis in adults and the opposite in children. Juvenile PA may be difficult to distinguish from JRA, with nail pitting and a family history of psoriasis being clues to the presence of PA. The hand is affected more extensively in PA than in any of the other inflammatory/rheumatic arthritidies. In addition to psoriasis on the hand, the nails become thick, irregular and pitted (Azouz and Duffy, 1995; Zizic and
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Table 1--Systemic disorders which may present with bilateral carpal tunnel syndrome
Systemic disorder
Associated ocular disease
Acromegaly Amyloidoses
Visual field disturbance Waxy papules on eyelids, corneal dystrophy, ptosis, keratoconjunctivitis sicca, amyloid glaucoma Corneal clouding, retinal degeneration, ptosis, strabismus, glaucoma Retinopathy, cataract, ocular palsies, optic atrophy, iris changes
Mucopolysaccharidoses Diabetes mellitus
Table 2~-Systemic disorders which are associated with joint hypermobility
Systemic disorder
Associated ocular disease
Marfan's syndrome
Lens dislocation, retinal detachment, glaucoma, syringoma Epicanthus, hypertelorism, syringoma Blue sclerae Corneal clouding, etc (see Table 1)
Ehlers-Danlos syndrome Osteogenesis imperfecta Mucopolysaccharidoses
Table 3~Systemic disorders which may cause arthritis in the hand and wrist
Systemic disorder
Associated ocular disease
Amyloidoses Gout Juvenile rheumatoid arthritis
Eyelid deposits, etc (see Table 1) Episcleritis, scleritis, crystalline keratopathy Chronic anterior uveitis (may progress to band keratopathy, cataracts and glaucoma) Conjunctivitis, acute anterior uveitis Conjunctivitis, acute anterior uveitis Keratoconjunctivitis sicca, retinopathy (cotton-wool spots), other ocular inflammations
Reiter's disease Psoriatic arthritis Systemic lupus erythematosus
Stevens, 1974). DIP joint swelling is common and inflammation of the flexor tendon sheath leads to the characteristic "sausage digit". Arthritis is typically asymmetric, affecting large and small joints (Azouz and Duffy, 1995). Chronic anterior uveitis is associated with PA, but less common than in cases of JRA (Azouz and Duffy, 1995; Petty, 1990). Episcleritis and conjunctivitis also occur with PA. Iridocyclitis is present in most individuals that are ANA positive (O'Brien et al, 1994). Because of the risk of blindness from undiagnosed uveitis (see above), patients with PA should have regular visual checks. EYE EXAMINATION FOR THE HAND SURGEON
Whilst confirmation and treatment of serious eye disorders should be done by an ophthalmologist, many of the ocular symptoms described above can be observed in normal daylight. All of these systemic diseases may have one or more of three common hand presentations: bilateral carpal tunnel syndrome (Table 1), joint hypermobility (Table 2) or arthritis (Table 3). Associated ocular signs can aid greatly in diagnosis.
The most obvious conditions which can be noted while speaking with a patient are malar butterfly rash (SLE), eyelid papules (amyloidosis), conjunctivitis (Reiter's syndrome, psoriatic arthritis, gout), ptosis (MPS disorders), epicanthus (EDS) and blue sclerae (osteogenesis imperfecta). Closer examination of the eye will allow one to observe corneal clouding (MPS disorders). Questions about discomfort in the eyes, coupled with close observation allow one to distinguish between scleritis (severe pain, deep purple sclera), episcleritis (discomfort, dry eyes, salmon pink colour) and keratoconjunctivitis sicca (dry, gritty eyes with conjunctivitis) (Watson and Hazleman, 1976). If the patient has noted a reduction in visual acuity or field, diabetes or acromegaly might be suspected. DISCUSSION Many of the ocular signs described here may be easily observed without special equipment. An awareness of the association between systematic disease and eye and hand conditions can assist in the diagnosis of an underlying pathology or in assessing its severity. Prompt
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recognition and treatment of systemic diseases and/or associated ocular conditions is enormously important for a patient's continued health and quality of life. Acknowledgements The authors would like to thank Drs T.V. Roberts, I.C. Francis, A.H. Lipson, M.B. Kappagoka, S.S. Zagarella and M.A. Hooper for assistance in preparation of the manuscript.
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Dr M. A. Tonkin, Department of Hand Surgery,Royal North Shore Hospital, St Leonards NSW 2065, Australia. © 1997The British Societyfor Surgeryof the Hand