Ocular findings in Cockayne syndrome.
The ocular findings in eight patients with Cockayne syndrome included enophthalmos, hyperopia, poor pupillary dilation, and retinal dystrophy in all patients. Four patients had strabismus. Two patients had cataracts. Three patients had nystagmus. Visual acuity was relatively well preserved in six patients, including a 25-year-old man with a visual acuity of 20/60 in each eye despite advanced retinal pigmentary changes. Failure of DNA and RNA synthesis to recover after ultraviolet light exposure as well as selective loss of repair of transcriptionally active DNA may account for the ocular abnormality in this progeric syndrome.
Traboulsi
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Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Ophthalmological Institute, Johns Hopkins Hospital, Baltimore, Maryland 21205.
De Becker
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Maumenee
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D000328:Adult; D002648:Child; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000150:complications*; D015841:Enophthalmos / Q000150:complications; D005128:Eye Diseases / Q000150:complications* / Q000175:diagnosis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D014786:Vision Disorders / Q000150:complications / Q000175:diagnosis; D014792:Visual Acuity