[Heredity in Stargardt disease and fundus flavimaculatus].
Many features allow to assert that Stargardt disease and fundus flavimaculatus are the one and same disease: clinically and functionally, macular and perimacular lesions present an absolute identity "Pure" fundus flavimaculatus does not exist the two affections can be found in a same pedigree (5 cases) a patient presenting one of these diseases can develop a more complete form (7 cases). The disease is usually and more often inherited as an autosomal recessive than an autosomal dominant fashion (5 cases out of 96 genealogies) with variable expressivity particularly for "flavimacular" lesions. The frequency of the disease is 1/6,670 inhabitants. There are two genes or more in charge of the disease.
Turut
P
P
Puech
B
B
D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D010375:Pedigree
L'hérédité dans la maladie de Stargardt et le fundus flavimaculatus.