[Central chorioretinal dystrophy with drusen and retinal crystals].
4 patients out of 2 pedigrees present an association of dominant drusen, central chorioretinal dystrophy and retinal crystals. It seems to be transmitted in an autosomal dominant mode. Drusen have also been found in 4 patients (3rd generation) at the age of 40 years. Central chorioretinal dystrophy and retinal crystals have not been found prior to the age of 60 years. Visual acuity and central scotoma depend on the central chorioretinal dystrophy. Electro-oculograms and electroretinograms exhibited relatively little changes. 2 patients showed phenotype II and IV of Fredriksen.
D000328:Adult; D000368:Aged; D001485:Basement Membrane / Q000473:pathology; D002829:Choroid / Q000473:pathology; D003460:Crystallization; D004585:Electrooculography; D004596:Electroretinography; D005451:Fluorescein Angiography; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D014603:Uveal Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology
Zentrale chorioretinale Dystrophie mit Drusen und retinalen Kristallen.