Metabolic tapetoretinal degenerations.
There are a number of metabolic diseases which cause tapetoretinal degeneration, suggesting that pure pigmentary retinopathy may also be metabolic in nature. On the other hand tapetoretinal degenerations may have various modes of inheritance, so we may conclude that the metabolic disorder at the basis of these diseases is not unique and that tapetoretinal degenerations are heterogenic. In this article, some 450 published reports on tapetoretinal degenerations are reviewed. Based on these reports, the clinical and ocular manifestations, laboratory and histopathological findings, inheritance patterns, and treatments of various syndromes characterized by tapetoretinal degenerations are described. It is hoped that the gathering together of this information in one source will acid in the future understanding of metabolically based eye disease.
D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000473:pathology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000473:pathology; D003554:Cystinosis / Q000473:pathology; D003555:Cystinuria / Q000473:pathology; D005123:Eye / Q000473:pathology*; D005260:Female; D006801:Humans; D007009:Hypolipoproteinemias / Q000473:pathology; D007849:Laurence-Moon Syndrome / Q000473:pathology; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis; D008064:Lipidoses / Q000473:pathology; D008297:Male; D008659:Metabolic Diseases / Q000473:pathology*; D009083:Mucopolysaccharidoses / Q000473:pathology; D009542:Niemann-Pick Diseases / Q000473:pathology; D009952:Ornithine / Q000378:metabolism; D010070:Oxalates / Q000378:metabolism; D019815:Oxalic Acid; D012035:Refsum Disease / Q000473:pathology; D012162:Retinal Degeneration / Q000209:etiology* / Q000473:pathology
D010070:Oxalates; D019815:Oxalic Acid; D009952:Ornithine