[Morphological and functional findings in a family with aniridia (author's transl)].
The history of a family with aniridia (11 patients) is presented. Morphologically the following changes were found: Ptosis, microcornea, anterior embryotoxon, defects of the iris ranging from corectopia and coloboma to hypoplasia of the iris and clinical aniridia cataracts and hypoplasia of the fovea. Functionally there was reduced visual acuity (best vision 0.2), nystagmus and strabismus. Dark adaptation, electrooculogram, photopic and scotopic electroretinogram were within normal limits. The patients were found to have a red-green color vision deficiency, which was perhaps caused by foveal hypoplasia and nystagmus, and a trito defect which could not be explained.
D000293:Adolescent; D000328:Adult; D001763:Blepharoptosis / Q000235:genetics; D002386:Cataract / Q000235:genetics; D002648:Child; D003103:Coloboma / Q000235:genetics; D003117:Color Vision Defects / Q000235:genetics; D003315:Cornea / Q000002:abnormalities; D005260:Female; D005451:Fluorescein Angiography; D005584:Fovea Centralis / Q000002:abnormalities; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome
Morphologische und funktionelle Befunde bei einer "Aniridie"-Sippe.