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Seckel syndrome and spontaneously dislocated lenses
CASE REPORT
Seckel syndrome and spontaneously dislocated lenses Shantan Reddy, MD, MPH, Christopher Starr, MD
Spontaneous bilateral lens dislocation with subcapsular and cortical cataract was found in a 17-year-old boy with Seckel syndrome. No other identifiable cause of lens dislocation was noted. J Cataract Refract Surg 2007; 33:910–912 Q 2007 ASCRS and ESCRS
Seckel syndrome is an autosomal recessive disorder characterized by dwarfism, intrauterine growth retardation, bird-like facies, microcephaly, and mental retardation.1 A myriad of ocular abnormalities have been described with this syndrome, including microphthalmia, pigmentary maculopathy, and optic nerve hypoplasia.1–4 Seckel syndrome has recently been associated with spontaneously dislocated lenses in a patient who was also diagnosed with homocystinuria, a well-recognized cause of lens dislocation.5 The authors, however, could not determine whether the lens dislocation was a result of the patient’s B-synthase deficiency or Seckel syndrome. To our knowledge, we report the first case of Seckel syndrome associated with spontaneously dislocated lenses and posterior subcapsular cataracts and no other identifiable cause. CASE REPORT A 17-year-old boy, who recently emigrated from India, was evaluated at the Manhattan Eye, Ear, & Throat Hospital for poor vision in both eyes for an unknown period of time. In India, diabetes and Seckel syndrome were diagnosed based on the intrauterine growth retardation from the fifth month of gestation and the patient’s low birth weight (2 kg), mild mental retardation, dwarfism, microcephaly, and a bird-like protrusion of his nose with a
Accepted for publication December 11, 2006. From the Department of Ophthalmology, Manhattan Eye, Ear & Throat Hospital and New York University School of Medicine, New York, New York. Neither author has a financial or proprietary interest in any material or method mentioned. Corresponding author: Shantan Reddy, MD, MPH, 45 East 25th Street, Apartment 19B, New York, New York 10010, USA. E-mail: [email protected].
910
Q 2007 ASCRS and ESCRS Published by Elsevier Inc.
receding chin (Figure 1). Seckel syndrome was later confirmed by a pediatrician in New York, who referred the patient to us for evaluation of the poor vision. The patient, however, did not complain of recent changes in visual acuity. Ophthalmic findings included visual acuity of 20/400 in both eyes, bilateral zonular dehiscence with superiorly dislocated lenses, and posterior subcapsular and cortical cataracts (Figure 2). The posterior examination was unremarkable. The patient had no history of trauma, and all laboratory examinations were normal including plasma homocysteine levels (5 nmol/mL), rapid plasma reagin, fluorescent treponemal antibody absorption, and blood sugar on diabetic medication. The patient is currently scheduled for intracapsular cataract extraction.
DISCUSSION Seckel syndrome was first described in 19601 on the basis of 2 cases studied by Seckel in Chicago and 13 cases of nanocephalic dwarfs that were reported in the literature. Since then, numerous reports have described a diverse constellation of systemic and ophthalmic presentations that are associated with the syndrome. Most abnormalities appear to be related to a deficiency in the growth of various structures. Data suggest the existence of insulin-like growth factor (IGF) resistance in patients with Seckel syndrome and growth retardation, and elevations in blood sugar are related to alterations in the IGF system.6 This may explain Seckel syndrome’s association with diabetes, dwarfism, microcephaly, and micropthalmia, as well as with hypoplasia of the cerebral gyral, optic nerves, external genitalia, and metacarpals.1–4 It is therefore not unreasonable to speculate that patients with Seckel syndrome may also have some degree of growth deficiency involving the zonules, leading to zonular hypoplasia and spontaneous lens dislocation. Since our patient did not notice a change in his vision and had poor follow-up in his native country, it is possible that lens dislocation may have occurred many years earlier. We cannot, however, rule out the possibility 0886-3350/07/$dsee front matter doi:10.1016/j.jcrs.2006.12.027
CASE REPORT: SECKEL SYNDROME
911
Figure 1. Color photographs of a patient with Seckel syndrome showing the characteristic bird-like facies, receding chin, and microcephaly.
of a progressive lens dislocation later in life that may be more indicative of a connective tissue or metabolic problem. Syndromes such as pseudoexfoliation, Marfan’s, Weil-Marchesani, and Ehlers-Danlos, as well as homocystinuria, are well-recognized causes of lens dis-
location. A previous report of Seckel syndrome with dislocated lenses raises the possibility that this syndrome may be another cause of such an event.5 However, the presence of homocystinuria in the patient raises some doubt about it. We show that Seckel syndrome, independent of any other hematologic
Figure 2. A: Photograph of the right eye showing a superiorly dislocated lens with complete absence of zonular attachment. B: Photograph of left eye showing a dense posterior subcapsular cataract.
J CATARACT REFRACT SURG - VOL 33, MAY 2007
912
CASE REPORT: SECKEL SYNDROME
abnormality, can cause spontaneous lens dislocation and may have to be included in the differential diagnosis. REFERENCES 1. Seckel HPG. Bird-Headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions. Springfield, IL, CC Thomas, 1960; 241 2. Guirgis MF, Lam BL, Howard CW. Ocular manifestations of Seckel syndrome. Am J Ophthalmol 2001; 132:596–597 3. Majewski F, Goecke T. Studies of microcephalic primordial dwarfism. I: approach to a delineation of the Seckel syndrome. Am J Med Genet 1982; 12:7–21 4. Capovilla G, Lorenzetti ME, Montagnini A, et al. Seckel’s syndrome and malformations of the cortical development: report of three new cases and review of literature. J Child Neurol 2001; 16:382–386
5. Seider N, Beiran I, Gelfand Y, et al. Dislocation of lenses in Seckel syndrome. J Pediatr Ophthalmol Strabismus 2002; 39: 237–238 6. Schmidt A, Chakravarty A, Brommer E, et al. Growth failure in a child showing characteristics of Seckel syndrome: possible effects of IGF-1 and endogenous IGFBP-3. Clin Endocrinol 2002; 57:293–299
J CATARACT REFRACT SURG - VOL 33, MAY 2007
First author: Shantan Reddy, MD, MPH
Seckel syndrome and spontaneously dislocated lenses Shantan Reddy, MD, MPH, Christopher Starr, MD
Spontaneous bilateral lens dislocation with subcapsular and cortical cataract was found in a 17-year-old boy with Seckel syndrome. No other identifiable cause of lens dislocation was noted. J Cataract Refract Surg 2007; 33:910–912 Q 2007 ASCRS and ESCRS
Seckel syndrome is an autosomal recessive disorder characterized by dwarfism, intrauterine growth retardation, bird-like facies, microcephaly, and mental retardation.1 A myriad of ocular abnormalities have been described with this syndrome, including microphthalmia, pigmentary maculopathy, and optic nerve hypoplasia.1–4 Seckel syndrome has recently been associated with spontaneously dislocated lenses in a patient who was also diagnosed with homocystinuria, a well-recognized cause of lens dislocation.5 The authors, however, could not determine whether the lens dislocation was a result of the patient’s B-synthase deficiency or Seckel syndrome. To our knowledge, we report the first case of Seckel syndrome associated with spontaneously dislocated lenses and posterior subcapsular cataracts and no other identifiable cause. CASE REPORT A 17-year-old boy, who recently emigrated from India, was evaluated at the Manhattan Eye, Ear, & Throat Hospital for poor vision in both eyes for an unknown period of time. In India, diabetes and Seckel syndrome were diagnosed based on the intrauterine growth retardation from the fifth month of gestation and the patient’s low birth weight (2 kg), mild mental retardation, dwarfism, microcephaly, and a bird-like protrusion of his nose with a
Accepted for publication December 11, 2006. From the Department of Ophthalmology, Manhattan Eye, Ear & Throat Hospital and New York University School of Medicine, New York, New York. Neither author has a financial or proprietary interest in any material or method mentioned. Corresponding author: Shantan Reddy, MD, MPH, 45 East 25th Street, Apartment 19B, New York, New York 10010, USA. E-mail: [email protected].
910
Q 2007 ASCRS and ESCRS Published by Elsevier Inc.
receding chin (Figure 1). Seckel syndrome was later confirmed by a pediatrician in New York, who referred the patient to us for evaluation of the poor vision. The patient, however, did not complain of recent changes in visual acuity. Ophthalmic findings included visual acuity of 20/400 in both eyes, bilateral zonular dehiscence with superiorly dislocated lenses, and posterior subcapsular and cortical cataracts (Figure 2). The posterior examination was unremarkable. The patient had no history of trauma, and all laboratory examinations were normal including plasma homocysteine levels (5 nmol/mL), rapid plasma reagin, fluorescent treponemal antibody absorption, and blood sugar on diabetic medication. The patient is currently scheduled for intracapsular cataract extraction.
DISCUSSION Seckel syndrome was first described in 19601 on the basis of 2 cases studied by Seckel in Chicago and 13 cases of nanocephalic dwarfs that were reported in the literature. Since then, numerous reports have described a diverse constellation of systemic and ophthalmic presentations that are associated with the syndrome. Most abnormalities appear to be related to a deficiency in the growth of various structures. Data suggest the existence of insulin-like growth factor (IGF) resistance in patients with Seckel syndrome and growth retardation, and elevations in blood sugar are related to alterations in the IGF system.6 This may explain Seckel syndrome’s association with diabetes, dwarfism, microcephaly, and micropthalmia, as well as with hypoplasia of the cerebral gyral, optic nerves, external genitalia, and metacarpals.1–4 It is therefore not unreasonable to speculate that patients with Seckel syndrome may also have some degree of growth deficiency involving the zonules, leading to zonular hypoplasia and spontaneous lens dislocation. Since our patient did not notice a change in his vision and had poor follow-up in his native country, it is possible that lens dislocation may have occurred many years earlier. We cannot, however, rule out the possibility 0886-3350/07/$dsee front matter doi:10.1016/j.jcrs.2006.12.027
CASE REPORT: SECKEL SYNDROME
911
Figure 1. Color photographs of a patient with Seckel syndrome showing the characteristic bird-like facies, receding chin, and microcephaly.
of a progressive lens dislocation later in life that may be more indicative of a connective tissue or metabolic problem. Syndromes such as pseudoexfoliation, Marfan’s, Weil-Marchesani, and Ehlers-Danlos, as well as homocystinuria, are well-recognized causes of lens dis-
location. A previous report of Seckel syndrome with dislocated lenses raises the possibility that this syndrome may be another cause of such an event.5 However, the presence of homocystinuria in the patient raises some doubt about it. We show that Seckel syndrome, independent of any other hematologic
Figure 2. A: Photograph of the right eye showing a superiorly dislocated lens with complete absence of zonular attachment. B: Photograph of left eye showing a dense posterior subcapsular cataract.
J CATARACT REFRACT SURG - VOL 33, MAY 2007
912
CASE REPORT: SECKEL SYNDROME
abnormality, can cause spontaneous lens dislocation and may have to be included in the differential diagnosis. REFERENCES 1. Seckel HPG. Bird-Headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions. Springfield, IL, CC Thomas, 1960; 241 2. Guirgis MF, Lam BL, Howard CW. Ocular manifestations of Seckel syndrome. Am J Ophthalmol 2001; 132:596–597 3. Majewski F, Goecke T. Studies of microcephalic primordial dwarfism. I: approach to a delineation of the Seckel syndrome. Am J Med Genet 1982; 12:7–21 4. Capovilla G, Lorenzetti ME, Montagnini A, et al. Seckel’s syndrome and malformations of the cortical development: report of three new cases and review of literature. J Child Neurol 2001; 16:382–386
5. Seider N, Beiran I, Gelfand Y, et al. Dislocation of lenses in Seckel syndrome. J Pediatr Ophthalmol Strabismus 2002; 39: 237–238 6. Schmidt A, Chakravarty A, Brommer E, et al. Growth failure in a child showing characteristics of Seckel syndrome: possible effects of IGF-1 and endogenous IGFBP-3. Clin Endocrinol 2002; 57:293–299
J CATARACT REFRACT SURG - VOL 33, MAY 2007
First author: Shantan Reddy, MD, MPH