[Tapeto-retinal degeneration combined with incomplete general albinism (author's transl)].
Report on a family, which presented the rare autosomal dominant transmitted, incomplete general albinism associated with autosomal recessive inherited, diffuse tapeto-retinal degeneration "sine pigmento".


METHODS
hypopigmentation of skin, eyebrows and hair, blue iris and fundus albinoticus with hypoplasia of the macula. In 3 cases additionally appeared: waxy pallor of optic disc, vascular narrowing, reflexless hypoplastic macula, pigmentless periphery, acquired blue-yellow blindness, concentric limitation of the visual field, reduced darkadaptation, abolished electroretinogram and myopic astigmatism.
D000293:Adolescent; D000328:Adult; D000417:Albinism / Q000150:complications* / Q000235:genetics; D003623:Dark Adaptation; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012162:Retinal Degeneration / Q000150:complications* / Q000235:genetics
Kombination von tapetoretinaler Degeneration mit inkomplettem allgemeinem Albinismus