Autosomal recessive vitreoretinopathy and encephaloceles.
We conducted a ten-year follow-up of an unusual pedigree with an autosomal recessive vitreoretinal degeneration, severe myopia, and congenital encephalocele. All five affected members (four girls and one boy) also had early, recurrent bilateral detachments. Color vision testing disclosed an acquired tritan dyschromatopsia and electroretinography showed subnormal photopic and scotopic amplitudes, delayed b-wave implicit times and 30-Hz flicker-phase relations, and absent scotopic b-wave oscillations.
D002648:Child; D002675:Child, Preschool; D003117:Color Vision Defects / Q000235:genetics; D004677:Encephalocele / Q000150:complications / Q000235:genetics*; D005123:Eye / Q000473:pathology; D005128:Eye Diseases / Q000150:complications / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007908:Lens, Crystalline / Q000473:pathology; D008297:Male; D009216:Myopia / Q000235:genetics; D009887:Ophthalmoscopy; D010375:Pedigree; D012162:Retinal Degeneration / Q000150:complications / Q000235:genetics*; D012163:Retinal Detachment / Q000235:genetics; D014822:Vitreous Body