Patterned dystrophies of the retinal pigment epithelium. A review.
Pigmentations and depigmentations, accompanied or not by yellow subretinal lipofuscin accumulations, are the ophthalmologically visible manifestations of dystrophies of the retinal pigment epithelium. The pigmentations may or may not become confluent and form concentric, butterfly-shaped or reticular configurations. Different patterns of pigment migration may occur in a family and even in one individual. Hence these dystrophies are called pattern(ed) dystrophies of the retinal pigment epithelium. The visual functions are relatively well-preserved, although severe visual impairment is not excluded. The pattern(ed) dystrophies are inherited as an autosomal dominant, an autosomal recessive or an X-linked recessive trait. The author suggests that some cases diagnosed as atypical pigmentary dystrophies with near-normal visual functions probably are dystrophies of the retinal pigment epithelium.
Pinckers
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Department of Ophthalmology, University of Nijmegen, The Netherlands.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010857:Pigment Epithelium of Eye / Q000473:pathology*; D012162:Retinal Degeneration / Q000235:genetics / Q000473:pathology*