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C. Teodori, I. Pecorella, D. Domanico, E. Vingolo; Are Retinal Pigmentary Degeneration and Cachectic Dwarfism M Alone Sufficient to Diagnose Cockayane Syndrome . Invest. Ophthalmol. Vis. Sci. 2005;46(13):532.
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Purpose:Cockayane syndrome is an inherited condition due to mutations in DNA repair genes. Clinically, a wide spectrum of signs can be manifested, including mostly deficient neurological development, growth failure, progressive retinal degeneration and photosensitivity. Two patients were referred to our Clinics with a diagnosis of Cockayane syndrome. Methods: Case 1. A 3–year–old boy with cerebellar hypoplasia and growth retardation. Past history was relevant for severe prematurity and low–weight birth, complicated postnatally by multiple gut perforations, infections, respiratory insufficiency, and non–hypertensive tetraventricular hydrocephalus. . Case 2. A 28–year–old male with severe mental retardation and muscle weakness. Results: Case 1. Fundoscopy showed atypical salt and pepper retinitis wit optic atrophy in both eyes. The electroretinogram (ERG) demonstrated bilaterally reduced scotopic responses Case 2. Ophthalmic examination disclosed peripheral pigmentary retinopathy. Reduced scotopic responses were apparent at ERG evaluation Conclusions: The diagnosis of Cockayane syndrome could not be confirmed in these two patients as the fundus findings might also be caused by neonatal retinal hypoxia, delivery trauma, respiratory infections, or vitamin A deficiency secondary to malnutrition
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