[Degenerative ocular retinal albinism in a girl ten years old (author's transl)].
Ocular albinism with myopia and impaired vision (R.E. 0.2; L.E. 0.6), but without nystagmus, were observed in a 10-year-old girl. The electrophysiological tests indicate, in addition, the presence of a tapetoretinal degeneration. It is assumed that the patient is carrier of two genes, a sex-linked one responsible for albinismus solum fundi and a second one of autosomal-recessive type, responsible for the tapetoretinal degenerartion.
D000417:Albinism / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003119:Color Perception Tests; D004585:Electrooculography; D004596:Electroretinography; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D012162:Retinal Degeneration / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D014787:Vision Tests
Albinisme oculaire et dégénérescence tapéto-rétinienne chez une fille de 10 ans.