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JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
Spectrum of pattern dystrophy in pseudoxanthoma elasticum.
Archives of Ophthalmology 2005 July
OBJECTIVE: To study the prevalence, type, and features of pattern dystrophy in patients with pseudoxanthoma elasticum (PXE).
METHODS: A search of the photographic records at the Vanderbilt Eye Institute using the keywords "angioid streaks and pseudoxanthoma elasticum" yielded 28 names. Of the 23 subjects meeting the patient selection criteria, 22 were confirmed to have a positive diagnosis for PXE after reviewing the medical history information. The diagnosis was confirmed by the constellation of fundus findings in all 22 subjects, by a clinical examination of the skin in 9, and by a skin biopsy specimen in 1.
RESULTS: Pattern dystrophy was present in 16 patients (27 eyes) of those with PXE. Fourteen patients (23 eyes) had fundus pulverulentus, 3 patients (5 eyes) had butterfly-shaped dystrophy, and 1 patient (2 eyes) each had fundus flavimaculatus and reticular dystrophy. One eye of one patient developed solitary vitelliform pattern dystrophy during follow-up. Two patients showed progression from one pattern into another during follow-up. Another patient, who at first showed no evidence of pattern dystrophy in either eye, developed fundus pulverulentus in both eyes 5 years later. One patient had simultaneous evidence of 2 types: butterfly and fundus flavimaculatus pattern in each eye. Angioid streaks were seen in each eye of all patients. Peau d'orange was noted in 18 patients, optic nerve drusen in 5, and retinal crystalline bodies in 9. Choroidal neovascular membrane was present in 15 patients.
CONCLUSIONS: All 5 varieties of pattern dystrophy, 2 of which were not previously associated with PXE, were seen in patients with PXE. Fluorescein angiogram was useful in delineating the type and extent of pattern dystrophy.
METHODS: A search of the photographic records at the Vanderbilt Eye Institute using the keywords "angioid streaks and pseudoxanthoma elasticum" yielded 28 names. Of the 23 subjects meeting the patient selection criteria, 22 were confirmed to have a positive diagnosis for PXE after reviewing the medical history information. The diagnosis was confirmed by the constellation of fundus findings in all 22 subjects, by a clinical examination of the skin in 9, and by a skin biopsy specimen in 1.
RESULTS: Pattern dystrophy was present in 16 patients (27 eyes) of those with PXE. Fourteen patients (23 eyes) had fundus pulverulentus, 3 patients (5 eyes) had butterfly-shaped dystrophy, and 1 patient (2 eyes) each had fundus flavimaculatus and reticular dystrophy. One eye of one patient developed solitary vitelliform pattern dystrophy during follow-up. Two patients showed progression from one pattern into another during follow-up. Another patient, who at first showed no evidence of pattern dystrophy in either eye, developed fundus pulverulentus in both eyes 5 years later. One patient had simultaneous evidence of 2 types: butterfly and fundus flavimaculatus pattern in each eye. Angioid streaks were seen in each eye of all patients. Peau d'orange was noted in 18 patients, optic nerve drusen in 5, and retinal crystalline bodies in 9. Choroidal neovascular membrane was present in 15 patients.
CONCLUSIONS: All 5 varieties of pattern dystrophy, 2 of which were not previously associated with PXE, were seen in patients with PXE. Fluorescein angiogram was useful in delineating the type and extent of pattern dystrophy.
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