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IM Russell-Eggitt; Early Onset Cockayne Syndrome (CS2): Early Diagnosis in a Pediatric Cataract Clinic . Invest. Ophthalmol. Vis. Sci. 2002;43(13):489.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: Our aim is to diagnose infants with early onset Cockayne syndrome (CS2) by characterization of the phenotype and by raising awareness of the presenting signs of this rare condition. Methods: We have designed a database to collect data on all children presenting to our Institute with cataract. In the last 5 years we have amassed data on 166 cases with cataract at less than one year of age (85 bilateral) of which 4 had CS2. The diagnosis was confirmed on ultraviolet (UV-C) irradiation of cultured fibroblasts that showed deficient recovery of RNA synthesis. Results: All 4 cases had bilateral cataracts at birth. All had microcephaly at birth with the head circumference progressively falling down the growth chart centiles. Another early clue to diagnosis revealed on direct questioning was sunburn after minimal UV exposure. The flash electroretinogram (ERG) in all 4 cases was smaller than average at the lower limit of normal. Conclusions: Measurement of head circumference should be routine in children with congenital cataract. All children with microcephaly and congenital cataracts should have an ERG. Failure to thrive and cutaneous sun sensitivity should alert the clinician to the possible diagnosis of CS2.
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