title: Corectopia with nystagmus, absent foveal reflexes and corneal changes.
abstract: A family is described with corectopia, nystagmus, absent foveal reflexes, and corneal changes inherited in an autosomal dominant pattern. Other abnormalities found in this family include microcornea, Bitot's spots, and iris colobomas. Faint superficial opacities and fine superficial vessels were found in the peripheral cornea of younger family members. Older family members showed an increase in the density of the superficial opacities and areas of stromal thinning were found in the 60-year-old proband. Corneal vessels and progression centrally. Full-thickness stromal opacities and changes have been associated with familial and sporadic aniridia and iris colobomas. The present report describes similar changes in association with corectopia.
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003103:Coloboma / Q000235:genetics; D003315:Cornea / Q000002:abnormalities*; D003318:Corneal Opacity / Q000235:genetics; D005260:Female; D005584:Fovea Centralis / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008266:Macula Lutea / Q000002:abnormalities*; D008297:Male; D008875:Middle Aged; D009759:Nystagmus, Pathologic / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome