title: [Norrie syndrome (author's transl)].
abstract: The Norrie syndrome, an x-chromosomal linked, recessive genetic disease, is described using ophthalmologic and genetic examinations of a family in three generations. The main symptom of this syndrome is retinal detachment with hemorrhages, which generally leads to blindness in early childhood. In addition to this, in 25--35% of the cases mental retardation and hearing problems are found. Special significance is to be attached to the differential diagnosis of this syndrome because the vascular proliferation on the retina is a non-specific, secondary reaction in children, which also occurs symptomatically in several other diseases.
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D001766:Blindness / Q000151:congenital*; D002648:Child; D005124:Eye Abnormalities; D005260:Female; D005808:Genes, Recessive; D006311:Hearing Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome
vernacular_title: Das Norrie-Syndrom.