Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy.

Abstract:

:We examined three affected members of a Chinese-American family with Bietti's crystalline retinopathy. The clinical characteristics of a 24-year-old proband are contrasted to the clinical findings of her grandmother, for whom we have 26 years of follow-up data. Lymphocytes and fibroblasts from a skin biopsy of the grandmother contained crystalline lysosomal material, which supports the diagnosis. Biochemical studies of the crystalline lysosomal material failed to identify the stored compounds but did not show them to be cholesterol or cholesterol ester. Finally, histopathologic studies performed for this condition demonstrated advanced panchorioretinal atrophy, with crystals and complex lipid inclusions seen in choroidal fibroblasts.

journal_name

Am J Ophthalmol

authors

Kaiser-Kupfer MI,Chan CC,Markello TC,Crawford MA,Caruso RC,Csaky KG,Guo J,Gahl WA

doi

10.1016/s0002-9394(14)76572-9

subject

Has Abstract

pub_date

1994-11-15 00:00:00

pages

569-82

issue

5

eissn

0002-9394

issn

1879-1891

pii

S0002-9394(14)76572-9

journal_volume

118

pub_type

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