A dominantly inherited chorioretinal degeneration resembling sectoral retinitis pigmentosa.
A light and electron microscopic study of an eye from a 79-year-old woman diagnosed as having sector retinitis pigmentosa is presented. Prominent bone spicule pigmentation was present bilaterally in the nasal quadrant. Retinal structure in the central fundus around the fovea and extending 2-3 mm peripherally was near normal with all photoreceptors and other retinal neurons present. Extensive degeneration of the retina occurred as one proceeded toward the peripheral regions from 3-5 mm from the fovea in all quadrants. Changes were evident within the entire choroid and were most severe in regions where retinal degeneration was most pronounced. It is likely that the extensive degenerative changes present in the retina were secondary effects that follow alterations in the choroidal blood supply in individuals affected with this disorder.
D000368:Aged; D001842:Bone and Bones / Q000473:pathology; D002829:Choroid / Q000473:pathology*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008854:Microscopy, Electron; D008875:Middle Aged; D009900:Optic Nerve / Q000473:pathology; D010211:Papilledema / Q000473:pathology; D010857:Pigment Epithelium of Eye / Q000473:pathology / Q000648:ultrastructure; D012162:Retinal Degeneration / Q000473:pathology*; D012174:Retinitis Pigmentosa / Q000473:pathology*; D014603:Uveal Diseases / Q000473:pathology