Pattern dystrophy of the retinal pigment epithelium.
We describe six related patients presenting with an autosomal dominantly inherited pattern dystrophy of the retinal pigment epithelium, significantly abnormal electro-oculogram and minor colour vision abnormalities. There is a continuum of variable phenotypic expression within the pattern dystrophies of the retinal pigment epithelium.
D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations / Q000473:pathology; D025063:Chromosome Disorders; D003117:Color Vision Defects / Q000235:genetics / Q000473:pathology; D004585:Electrooculography; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology*; D012162:Retinal Degeneration / Q000235:genetics* / Q000473:pathology