Ocular findings in four siblings with pseudoxanthoma elasticum.
In a family consisting of 8 surviving siblings, pseudoxanthoma elasticum was diagnosed in 4 sisters. One of them had a severe visual handicap, and another a slight decrease of the visual acuity because of the ocular lesions. The other 2 sisters also had fundal lesions, but they were visually symptom-free. Great variation was also found in the appearance of the ocular lesions in the affected siblings. In addition to the angioid streaks, the fundal findings in the probands affected included changes of the retinal pigment epithelium, exudative maculopathy, optic disc drusen and 'fire-work'-pattern of drusen of the Bruch's membrane. A similar variety of alterations was also found in the histopathology of the skin.
D000328:Adult; D000793:Angioid Streaks / Q000235:genetics / Q000473:pathology; D002648:Child; D005123:Eye / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D011561:Pseudoxanthoma Elasticum / Q000235:genetics* / Q000473:pathology; D012162:Retinal Degeneration / Q000235:genetics / Q000473:pathology; D012867:Skin / Q000473:pathology; D014792:Visual Acuity