Tapeto-retinal degeneration combined with incomplete general albinism
Ivandić, T.
Klinische Monatsblatter für Augenheilkunde 166(5): 698-703
1975
ISSN/ISBN: 0023-2165 PMID: 1177401 Document Number: 92448
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". 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.