title: Unusual variant of familial aniridia.
abstract: A woman and her two children had apparent dominantly inherited ocular abnormalities including aniridia, ptosis, nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, and foveal hypoplasia. A broad spectrum of iris abnormalities was observed: the daughter had aniridia with persistent pupillary membrane strands traversing the anterior lens capsule; the iris of the mother and son had a velvety surface with no detailed crypts, but did have some persistent pupillary membrane tags extending from the collarette. All three family members had moderately severe bilateral ptosis, pendular nystagmus, corneal pannus, and visual acuity of 20/200. Several systemic abnormalities also were noted, including obesity and mental retardation in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. Family history indicated that the children's maternal grandmother also had similar ocular findings. We believe that this constellation of findings represents a rare, apparently dominant, variant of aniridia.
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D005124:Eye Abnormalities; D005128:Eye Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology; D005260:Female; D005654:Fundus Oculi; D005799:Genes, Dominant; D014644:Genetic Variation; D006801:Humans; D007498:Iris / Q000002:abnormalities* / Q000473:pathology; D008297:Male