Keratoconus and Leber's congenital amaurosis: a clinicopathological correlation.
A 42-year-old man with Leber's congenital amaurosis, cataracts and keratoconus died following abdominal surgery. Postmortem pathological examination of the globes disclosed cone-shaped corneas with unusual central subepithelial scars and a retinopathy consistent with retinitis pigmentosa. A review of the family history revealed two siblings with congenital blindness.
D000328:Adult; D001766:Blindness / Q000150:complications* / Q000151:congenital / Q000235:genetics / Q000473:pathology; D005123:Eye / Q000473:pathology; D006801:Humans; D007640:Keratoconus / Q000150:complications* / Q000235:genetics / Q000473:pathology; D008297:Male; D010375:Pedigree