- Email: [email protected]
Corneal Abnormalities in a Mother and Daughter With Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome)
chelonei, and Candida species.2'4 Our patient's clinical course worsened despite aggressive medical treatment, and a therapeutic penetrating keratoplasty was required. REFERENCES
Fig. 2 (Heidemann, Dunn, and Watts). Gomori methenamine silver stain of recipient cornea shows the corneal ulcer and numerous septate, branching hyphae throughout the necrotic corneal stroma.
Postoperatively, the patient was treated with topical amphotericin B and prednisolone acetate 1%, and oral itraconazole. The amphotericin B and itraconazole were discontinued six weeks postoperatively. Four months postoperatively, her visual acuity was corrected to 20/40. Slit-lamp examination showed a clear graft, with no inflammation or evidence of recurrent infection. Infectious keratitis is an uncommon but visually remarkable complication of radial keratotomy.1 Topical corticosteroid therapy and the presence of corneal incisions put the patient at risk for infectious keratitis. Our patient did not have a history of postoperative corneal erosion, trauma, or contact lens wear. She had a focal midstromal infiltrate along a radial incision. Cultures were initially deferred because the patient was taking topical antibiotics, and the infiltrate was small, with minimal surrounding inflammation and no overlying epithelial defect. When the infiltrate increased in size, cultures performed one day after discontinuation of antibiotics yielded A. fuml· gatus. The present case demonstrates the importance of obtaining comprehensive cultures when one suspects infectious keratitis after radial keratotomy. A wide variety of microbial pathogens have caused infectious keratitis after radial keratotomy, including grampositive cocci, gram-negative bacilli, anaerobic bacteria (Propionibacterium acnes), Mycobacterium
256
1. Rashid ER, Waring GO. Complications of radial and transverse keratotomy. Surv Ophthalmol 1989;34:73-106. 2. Matoba AY, Torres J, Wilhelmus KR, Hamill MB, Jones DB. Bacterial keratitis after radial keratotomy. Ophthalmology 1989;96:1171-5. 3. Robin JB, Beatty RF, Dunn S, Trousdale MD, Riffenburgh R, Rao N, et al. Mycobacterium chelonei keratitis after radial keratotomy. Am J Ophthalmol 1986;102:72-9. 4. Maskin SL, Alfonso E. Fungal keratitis after radial keratotomy. Am J Ophthalmol 1992;114:369-70.
Corneal Abnormalities in a Mother and Daughter With Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Gregg T. Lueder, M.D., and Robert D. Steiner, M.D. PURPOSE/METHODS: Focal dermal hypoplasia is an inherited dermatologie disorder commonly associated with skeletal and dental abnormalities. Ocular abnormalities frequently found in patients with focal dermal hypoplasia include microphthalmos, anophthalmos, and colobomas. Corneal abnormalities rarely have been described in patients with focal dermal hypoplasia. We examined a mother and daughter with focal dermal hypoplasia with distinctive corneal lesions. RESULTS/CONCLUSION: Several discrete vascularized peripheral subepithelial corneal opacifications were present bilaterally in both patients with focal dermal hypoplasia. N o ocular abnormalities that would predispose to these abnormalities were found. These corneal lesions appear to represent an unusual manifestation of focal dermal hypoplasia. Departments of Ophthalmology and Visual Sciences (G.T.L.) and Pediatrics (G.T.L., R.D.S.), Washington University Medical Center and St. Louis Children's Hospital. Inquiries to Gregg T. Lueder, M.D., Department of Ophthalmology and Visual Sciences, Washington University Medical Center, Box 8096, 660 S. Euclid Ave., St. Louis, MO 63110; E-mail: [email protected].
AMERICAN JOURNAL OF OPHTHALMOLOGY
AUGUST 1995
F
CASE REPORTS
OCAL DERMAL HYPOPLASIA (GOLTZ-GORLIN SYN-
drome; Mendelian Inheritance in Man catalog No. 305600) is a rare inherited disorder characterized by skin lesions that result from hypoplasia of the dermal skin layer and protrusion of subcutaneous fat. Over 200 cases have been reported.1 Most cases are sporadic, but the preponderance of affected females and rare familial cases suggest X-linked dominant inheritance. The skin lesions appear as yellow-red nodules and are often found in a linear arrangement on the trunk and limbs. Organ systems derived from embryonic ectoderm and mesoderm may be affected in patients with focal dermal hypoplasia. Systemic findings commonly include abnormal hair, teeth, and digits. Dental abnormalities include enamel defects, malocclusion, and hypodontia. Digital malformations include syndactyly, polydactyly, and adactyly. Ocular abnormalities occur in approximately 40% of patients with focal dermal hypoplasia.2 These abnormalities include anophthalmia, microphthalmia, eyelid papillomas, nasolacrimal duct obstruction, aniridia, and colobomas of the iris, choroid, retina, and optic nerve. Corneal abnormalities rarely have been reported in patients with focal dermal hypoplasia. Diffuse corneal opacities were noted in microphthalmic eyes,2,3 and one patient with keratoconus and areas of perilimbal punctate calcific deposits was described.4
Fig. 1 (Lueder and Steiner). Slit-lamp photograph of the right eye demonstrates discrete subepithelial corneal opacity (large arrow) and prominent corneal nerves (small arrow).
VOL. I 20,
No. 2
• CASE l: A 14-year-old black girl underwent a routine ocular examination. Her ocular history disclosed bilateral congenital nasolacrimal duct obstruction for which she had undergone bilateral probing. She continued to have mild epiphora. She had no history of contact lens use or of chronic or acute ocular irritation suggestive of keratitis, conjunctivitis, or dacryocystitis. Visual acuity was 20/20 in both eyes. Her lower lacrimal puncta were elongated. The right tear lake was slightly increased. A dye disappearance test showed delayed tear drainage from the right eye. There were no signs of conjunctivitis or blepharitis. Discrete areas of pannuslike vascularized subepithelial opacities were present inferiorly in both eyes and superiorly in the left eye (Figs. 1 and 2). On the leading aspect of the inferior lesion in the left eye there was a focal, nonelevated area of increased subepithelial opacification (Fig. 2). The corneal epithelium was clear in both eyes without punctate keratitis. The corneal nerves were prominent (Fig. 1). Basal Schirmer test with topical anesthesia disclosed normal tear production in both eyes. The corneal lesions did not progress over a one-year period. A clinical geneticist's examination of the patient disclosed scalp hypotrichosis, hypodontia, dystrophic fingernails, and skin hypopigmentation. These findings, in combination with nasolacrimal duct obstruction, were indicative of focal dermal hypoplasia. • CASE 2: Ocular examination of the mother, who also had a history of chronic epiphora, showed identical corneal abnormalities at the superior limbus in both eyes. No focal areas of increased opacification were present within the lesions. A clinical geneticist's examination of the mother disclosed syndactyly, scalp hypotrichosis, hypodontia, dystrophic fingernails, and reticular hypopigmented skin lesions consistent with focal dermal hypoplasia. No other family members were known to have stigmata of focal dermal hypoplasia. Previously reported corneal abnormalities in patients with focal dermal hypoplasia consist of diffuse opacities associated with microphthalmos,2,3 keratoconus,4 and areas of perilimbal punctate calcific deposits.4 Peripheral subepithelial opacities (pannus) are
BRIEF REPORTS
257
5. Forgäcs J, Franceschetti A. Histologie aspect of corneal changes due to hereditary, metabolic, and cutaneous affections. Am J Ophthalmol 1959;47(5, pt 2):191-202. 6. Urban MD, Schosser R, Spohn W, Wending WO, Robinow M. New clinical aspects of hereditary mucoepithelial dysplasia. Am J Med Genet 1991;39:338-41. 7. Soong HK, Raizman MB. Corneal changes in familial iris coloboma. Ophthalmology 1986;93:335-9.
Convergence Insufficiency Secondary to Subdural Hematoma Fig. 2 (Lueder and Steiner). Slit-lamp photograph of the left eye demonstrates larger subepithelial corneal opacity (large arrow) with prominent vessels and an area of increased density on the leading edge (small arrow).
usually seen in patients with an underlying disorder of the cornea, conjunctiva, or eyelids. No such abnormalities were found in our patients. Nasolacrimal duct obstruction is an unlikely explanation for the lesions because it is not a recognized cause of pannus and the lesions were present superiorly in both patients, out of the increased tear lakes. Similar pannuslike corneal lesions have been reported in other inherited dermatologie disorders, including keratosis follicularis spinulosa decalvans5 and hereditary mucoepithelial dysplasia.6 Similar corneal lesions have also been reported in patients with aniridia and iris colobomas.7 Both aniridia and iris colobomas have been described in patients with focal dermal hypoplasia, but they were not present in our patients.2 These corneal lesions appear to represent an unusual ocular manifestation of focal dermal hypoplasia. REFERENCES 1. Goltz RW. Focal dermal hypoplasia syndrome: an update. Arch Dermatol 1992;128:1108-11. 2. Thomas JV, Yoshizumi MO, Beyer CK, Craft JL, Albert DM. Ocular manifestations of focal dermal hypoplasia syndrome. Arch Ophthalmol 1977;95:1997-2001. 3. Marcus DM, Shore JW, Albert DM. Anophthalmia in the focal dermal hypoplasia syndrome. Arch Ophthalmol 1990;108:96-100. 4. Zala L, Ettlin C, Krebs A. Fokale dermale Hypoplasie mit Keratokonus, Ösophaguspapillomen und Hidrokystomen. Dermatologica 1975;150:176-85.
258
Abraham Spierer, M.D., Ruth Huna, M.D., Cécile Rechtman, and Daniela Lapidot PURPOSE/METHODS: Symptomatic convergence insufficiency developed in a 56-year-old man after he sustained head trauma and developed subdural hematoma. RESULTS/CONCLUSION: All symptoms resolved after surgical evacuation of the subdural hematoma. Convergence insufficiency developing after head trauma could be the result of a subdural hematoma.
S
UBDURAL HEMATOMA MAY CAUSE OCULAR DISTURbances secondary to increased intracranial pressure. The ocular signs may include papilledema, pupillary changes, or homonymous hemianopsia. A 56-year-old man first attended the outpatient clinic in 1987 for treatment of a pterygium of the left eye. He underwent pterygium excision in July 1991. Because of recurrence, he underwent a second pterygium excision in June 1992. At that time, results of a complete ophthalmologic examination including binocular functions were within normal limits, except for the sequelae of pterygium surgery. In April 1994, the patient was seen again because he complained of difficulty with reading. The print would swim on the page, and he saw double. Part of the time he covered one eye while reading. One month previously he had suffered from head trauma while bumping accidentally into a gate. He had no neurologic problems at that time. O n examination he was found to have the following: refraction and visual acuity were R.E.: Ooldschleger Eye Institute, Sheba Medical Center. Inquiries to Abraham Spierer, M.D., Ooldschleger Eye Institute, Sheba Medical Center, Tel-Hashomer 52521, Israel; fax: (972) 3-530-2822.
AMERICAN JOURNAL OF OPHTHALMOLOGY
AUGUST
1995
Fig. 2 (Heidemann, Dunn, and Watts). Gomori methenamine silver stain of recipient cornea shows the corneal ulcer and numerous septate, branching hyphae throughout the necrotic corneal stroma.
Postoperatively, the patient was treated with topical amphotericin B and prednisolone acetate 1%, and oral itraconazole. The amphotericin B and itraconazole were discontinued six weeks postoperatively. Four months postoperatively, her visual acuity was corrected to 20/40. Slit-lamp examination showed a clear graft, with no inflammation or evidence of recurrent infection. Infectious keratitis is an uncommon but visually remarkable complication of radial keratotomy.1 Topical corticosteroid therapy and the presence of corneal incisions put the patient at risk for infectious keratitis. Our patient did not have a history of postoperative corneal erosion, trauma, or contact lens wear. She had a focal midstromal infiltrate along a radial incision. Cultures were initially deferred because the patient was taking topical antibiotics, and the infiltrate was small, with minimal surrounding inflammation and no overlying epithelial defect. When the infiltrate increased in size, cultures performed one day after discontinuation of antibiotics yielded A. fuml· gatus. The present case demonstrates the importance of obtaining comprehensive cultures when one suspects infectious keratitis after radial keratotomy. A wide variety of microbial pathogens have caused infectious keratitis after radial keratotomy, including grampositive cocci, gram-negative bacilli, anaerobic bacteria (Propionibacterium acnes), Mycobacterium
256
1. Rashid ER, Waring GO. Complications of radial and transverse keratotomy. Surv Ophthalmol 1989;34:73-106. 2. Matoba AY, Torres J, Wilhelmus KR, Hamill MB, Jones DB. Bacterial keratitis after radial keratotomy. Ophthalmology 1989;96:1171-5. 3. Robin JB, Beatty RF, Dunn S, Trousdale MD, Riffenburgh R, Rao N, et al. Mycobacterium chelonei keratitis after radial keratotomy. Am J Ophthalmol 1986;102:72-9. 4. Maskin SL, Alfonso E. Fungal keratitis after radial keratotomy. Am J Ophthalmol 1992;114:369-70.
Corneal Abnormalities in a Mother and Daughter With Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Gregg T. Lueder, M.D., and Robert D. Steiner, M.D. PURPOSE/METHODS: Focal dermal hypoplasia is an inherited dermatologie disorder commonly associated with skeletal and dental abnormalities. Ocular abnormalities frequently found in patients with focal dermal hypoplasia include microphthalmos, anophthalmos, and colobomas. Corneal abnormalities rarely have been described in patients with focal dermal hypoplasia. We examined a mother and daughter with focal dermal hypoplasia with distinctive corneal lesions. RESULTS/CONCLUSION: Several discrete vascularized peripheral subepithelial corneal opacifications were present bilaterally in both patients with focal dermal hypoplasia. N o ocular abnormalities that would predispose to these abnormalities were found. These corneal lesions appear to represent an unusual manifestation of focal dermal hypoplasia. Departments of Ophthalmology and Visual Sciences (G.T.L.) and Pediatrics (G.T.L., R.D.S.), Washington University Medical Center and St. Louis Children's Hospital. Inquiries to Gregg T. Lueder, M.D., Department of Ophthalmology and Visual Sciences, Washington University Medical Center, Box 8096, 660 S. Euclid Ave., St. Louis, MO 63110; E-mail: [email protected].
AMERICAN JOURNAL OF OPHTHALMOLOGY
AUGUST 1995
F
CASE REPORTS
OCAL DERMAL HYPOPLASIA (GOLTZ-GORLIN SYN-
drome; Mendelian Inheritance in Man catalog No. 305600) is a rare inherited disorder characterized by skin lesions that result from hypoplasia of the dermal skin layer and protrusion of subcutaneous fat. Over 200 cases have been reported.1 Most cases are sporadic, but the preponderance of affected females and rare familial cases suggest X-linked dominant inheritance. The skin lesions appear as yellow-red nodules and are often found in a linear arrangement on the trunk and limbs. Organ systems derived from embryonic ectoderm and mesoderm may be affected in patients with focal dermal hypoplasia. Systemic findings commonly include abnormal hair, teeth, and digits. Dental abnormalities include enamel defects, malocclusion, and hypodontia. Digital malformations include syndactyly, polydactyly, and adactyly. Ocular abnormalities occur in approximately 40% of patients with focal dermal hypoplasia.2 These abnormalities include anophthalmia, microphthalmia, eyelid papillomas, nasolacrimal duct obstruction, aniridia, and colobomas of the iris, choroid, retina, and optic nerve. Corneal abnormalities rarely have been reported in patients with focal dermal hypoplasia. Diffuse corneal opacities were noted in microphthalmic eyes,2,3 and one patient with keratoconus and areas of perilimbal punctate calcific deposits was described.4
Fig. 1 (Lueder and Steiner). Slit-lamp photograph of the right eye demonstrates discrete subepithelial corneal opacity (large arrow) and prominent corneal nerves (small arrow).
VOL. I 20,
No. 2
• CASE l: A 14-year-old black girl underwent a routine ocular examination. Her ocular history disclosed bilateral congenital nasolacrimal duct obstruction for which she had undergone bilateral probing. She continued to have mild epiphora. She had no history of contact lens use or of chronic or acute ocular irritation suggestive of keratitis, conjunctivitis, or dacryocystitis. Visual acuity was 20/20 in both eyes. Her lower lacrimal puncta were elongated. The right tear lake was slightly increased. A dye disappearance test showed delayed tear drainage from the right eye. There were no signs of conjunctivitis or blepharitis. Discrete areas of pannuslike vascularized subepithelial opacities were present inferiorly in both eyes and superiorly in the left eye (Figs. 1 and 2). On the leading aspect of the inferior lesion in the left eye there was a focal, nonelevated area of increased subepithelial opacification (Fig. 2). The corneal epithelium was clear in both eyes without punctate keratitis. The corneal nerves were prominent (Fig. 1). Basal Schirmer test with topical anesthesia disclosed normal tear production in both eyes. The corneal lesions did not progress over a one-year period. A clinical geneticist's examination of the patient disclosed scalp hypotrichosis, hypodontia, dystrophic fingernails, and skin hypopigmentation. These findings, in combination with nasolacrimal duct obstruction, were indicative of focal dermal hypoplasia. • CASE 2: Ocular examination of the mother, who also had a history of chronic epiphora, showed identical corneal abnormalities at the superior limbus in both eyes. No focal areas of increased opacification were present within the lesions. A clinical geneticist's examination of the mother disclosed syndactyly, scalp hypotrichosis, hypodontia, dystrophic fingernails, and reticular hypopigmented skin lesions consistent with focal dermal hypoplasia. No other family members were known to have stigmata of focal dermal hypoplasia. Previously reported corneal abnormalities in patients with focal dermal hypoplasia consist of diffuse opacities associated with microphthalmos,2,3 keratoconus,4 and areas of perilimbal punctate calcific deposits.4 Peripheral subepithelial opacities (pannus) are
BRIEF REPORTS
257
5. Forgäcs J, Franceschetti A. Histologie aspect of corneal changes due to hereditary, metabolic, and cutaneous affections. Am J Ophthalmol 1959;47(5, pt 2):191-202. 6. Urban MD, Schosser R, Spohn W, Wending WO, Robinow M. New clinical aspects of hereditary mucoepithelial dysplasia. Am J Med Genet 1991;39:338-41. 7. Soong HK, Raizman MB. Corneal changes in familial iris coloboma. Ophthalmology 1986;93:335-9.
Convergence Insufficiency Secondary to Subdural Hematoma Fig. 2 (Lueder and Steiner). Slit-lamp photograph of the left eye demonstrates larger subepithelial corneal opacity (large arrow) with prominent vessels and an area of increased density on the leading edge (small arrow).
usually seen in patients with an underlying disorder of the cornea, conjunctiva, or eyelids. No such abnormalities were found in our patients. Nasolacrimal duct obstruction is an unlikely explanation for the lesions because it is not a recognized cause of pannus and the lesions were present superiorly in both patients, out of the increased tear lakes. Similar pannuslike corneal lesions have been reported in other inherited dermatologie disorders, including keratosis follicularis spinulosa decalvans5 and hereditary mucoepithelial dysplasia.6 Similar corneal lesions have also been reported in patients with aniridia and iris colobomas.7 Both aniridia and iris colobomas have been described in patients with focal dermal hypoplasia, but they were not present in our patients.2 These corneal lesions appear to represent an unusual ocular manifestation of focal dermal hypoplasia. REFERENCES 1. Goltz RW. Focal dermal hypoplasia syndrome: an update. Arch Dermatol 1992;128:1108-11. 2. Thomas JV, Yoshizumi MO, Beyer CK, Craft JL, Albert DM. Ocular manifestations of focal dermal hypoplasia syndrome. Arch Ophthalmol 1977;95:1997-2001. 3. Marcus DM, Shore JW, Albert DM. Anophthalmia in the focal dermal hypoplasia syndrome. Arch Ophthalmol 1990;108:96-100. 4. Zala L, Ettlin C, Krebs A. Fokale dermale Hypoplasie mit Keratokonus, Ösophaguspapillomen und Hidrokystomen. Dermatologica 1975;150:176-85.
258
Abraham Spierer, M.D., Ruth Huna, M.D., Cécile Rechtman, and Daniela Lapidot PURPOSE/METHODS: Symptomatic convergence insufficiency developed in a 56-year-old man after he sustained head trauma and developed subdural hematoma. RESULTS/CONCLUSION: All symptoms resolved after surgical evacuation of the subdural hematoma. Convergence insufficiency developing after head trauma could be the result of a subdural hematoma.
S
UBDURAL HEMATOMA MAY CAUSE OCULAR DISTURbances secondary to increased intracranial pressure. The ocular signs may include papilledema, pupillary changes, or homonymous hemianopsia. A 56-year-old man first attended the outpatient clinic in 1987 for treatment of a pterygium of the left eye. He underwent pterygium excision in July 1991. Because of recurrence, he underwent a second pterygium excision in June 1992. At that time, results of a complete ophthalmologic examination including binocular functions were within normal limits, except for the sequelae of pterygium surgery. In April 1994, the patient was seen again because he complained of difficulty with reading. The print would swim on the page, and he saw double. Part of the time he covered one eye while reading. One month previously he had suffered from head trauma while bumping accidentally into a gate. He had no neurologic problems at that time. O n examination he was found to have the following: refraction and visual acuity were R.E.: Ooldschleger Eye Institute, Sheba Medical Center. Inquiries to Abraham Spierer, M.D., Ooldschleger Eye Institute, Sheba Medical Center, Tel-Hashomer 52521, Israel; fax: (972) 3-530-2822.
AMERICAN JOURNAL OF OPHTHALMOLOGY
AUGUST
1995