title: An early-onset retinal dystrophy with dominant inheritance in the Abyssinian cat. Clinical and pathological findings.
abstract: The clinical and pathological features of an early-onset autosomal dominant photoreceptor degeneration in the Abyssinian cat are described. Ophthalmoscopic evidence of retinal disease at 8-12 weeks of age was always preceded by marked dilatation of the pupils, impairment of the pupillary light reflex, and nystagmus. The electroretinogram was unrecordable in all but one of the affected individuals examined. Abnormal photoreceptor development was observed by both light and electron microscopy in retinas of a 22-day-old kitten; in this individual, no outer segment material was detected, and inner segments showed impaired development which was more severe towards the posterior pole. In a 40-day-old kitten, the inner segments were relatively well-formed, whereas the outer segments, though present, showed marked disorganization and degenerative change. The retinas of older individuals showed more advanced photoreceptor degeneration, with thinning of the neural retina. This early-onset retinopathy, which may be classified as a rod-cone dysplasia, is distinct from the hereditary retinal dystrophy (progressive retinal atrophy) previously described in this breed. The gene symbol Rdy has been adopted.
mesh_terms: D000818:Animals; D002371:Cat Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002415:Cats / Q000235:genetics*; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D005799:Genes, Dominant; D008297:Male; D008854:Microscopy, Electron; D012160:Retina / Q000473:pathology / Q000648:ultrastructure; D012162:Retinal Degeneration / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000662:veterinary*