Pattern dystrophies of the retinal pigment epithelium. The study of three generations in a family.
Three members of a family in one generation were affected by a pattern dystrophy of the retinal pigment epithelium. The patients present typical hyperpigmented macular RPE lesions in a butterfly-shaped to (macro-)reticular pattern, and were all asymptomatic. Examination of 26 family members in 3 generations suggests autosomal recessive inheritance. The family showed some cases of congenital deutanomaly, and a female subject presented both disorders.
Kempeneers
H P
HP
Ophthalm. Service, Bruges, Belgium.
Dewachter
A
A
Kempeneers
G M
GM
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008266:Macula Lutea / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010857:Pigment Epithelium of Eye / Q000473:pathology*; D012164:Retinal Diseases / Q000235:genetics* / Q000473:pathology