CLINICAL BIOCHEMICAL AND PATHOLOGICAL CORRELATIONS IN BIETTIS CRYSTALLINE DYSTROPHY
CLINICAL BIOCHEMICAL AND PATHOLOGICAL CORRELATIONS IN BIETTIS CRYSTALLINE DYSTROPHY
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DOI：
10.1016/s0002-9394(14)76572-9
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发表时间：
1994-11-15
影响因子：
4.2
通讯作者：
GAHL, WA
中科院分区：
文献类型：
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作者：
KAISERKUPFER, MI;CHAN, CC;GAHL, WA
我们检查了三个受影响的成员，一个华裔美国家庭与Bietti的结晶性视网膜病变。一个24岁的先证者的临床特征与她祖母的临床表现进行对比，我们对她祖母有26年的随访数据。来自祖母皮肤活检的淋巴细胞和成纤维细胞含有结晶溶酶体物质，这支持诊断。结晶溶酶体物质的生化研究未能识别储存的化合物，但未显示它们是胆固醇或胆固醇酯。最后，对这种情况进行的组织病理学研究表明，晚期全脉络膜视网膜萎缩，脉络膜成纤维细胞中可见晶体和复杂的脂质夹杂物。
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.