Crystalline retinopathy.
A 34-year-old woman had crystalline dystrophy of the retina associated with atrophy of the choriocapillaris and pigment epithelium, and pigment clumping in the fundus periphery. Consanguinity of her parents suggested an autosomal recessive inheritance pattern for this type of crystalline retinal dystrophy. The patient did not have corneal crystals. Her electroretinogram was normal, although her electro-oculogram was abnormal.
D000328:Adult; D002829:Choroid / Q000098:blood supply; D003460:Crystallization; D004585:Electrooculography; D004596:Electroretinography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology*; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*