[Different manifestations of tapetoretinal degeneration in the same family (author's transl)].
A family with two siblings with six cases of tapetoretinal degeneration is reported. In the first case one individual present a degeneration of both scotopic and photopic visual systems, whereas another patient had macular degeneration of the Stargardt type. In the second, there was one case of photopic and stotopic degeneration, one case of fundus flavimaculatus, one case of Stargardt disease, and one case of retinitis pigmentosa inversa. The study of this family suggests on the one hand that Stargardt disease and fundus flavimaculatus are expressions of the same disease. On the other hand, the simultaneous presence of central and diffuse alterations of the fundus raises the question as to whether these various forms of hereditary degeneration may be included in a single class of disease.
D000293:Adolescent; D000328:Adult; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012162:Retinal Degeneration / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
Manifestations diverses de dégénérescence tapéto-rétinienne dans la même famille. A propos de l' unicité des hérédodégénérescences choriorétiniennes.