title: Genetic approach to the nosology of retinal disorders.
abstract: During the last 20 years we have carried out, with the collaborators of our Institute, a series of genetic and epidemiologic investigations on tapetoretinal degenerations and allied diseases in Switzerland. Basing conclusions both on the results of this inquiry and on the findings in the literature, we give in this study a general survey of the chorioretinal abiotrophies and describe in particular their clinical and genetic aspects as well as their association with other congenital and hereditary anomalies. A nosologic classification is proposed which takes into account the clinical and genetic features of the systemic heredodegenerative conditions of the retina.
mesh_terms: D000015:Abnormalities, Multiple / Q000150:complications; D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000150:complications; D001284:Atrophy; D001766:Blindness / Q000235:genetics; D002829:Choroid; D005128:Eye Diseases / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008268:Macular Degeneration / Q000235:genetics; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications; D008875:Middle Aged; D010375:Pedigree; D012162:Retinal Degeneration / Q000145:classification / Q000235:genetics*; D012173:Retinitis / Q000151:congenital; D012174:Retinitis Pigmentosa / Q000235:genetics; D013577:Syndrome; D014786:Vision Disorders / Q000151:congenital; D014822:Vitreous Body