Kaiser-Kupfer M I, Chan C C, Markello T C, Crawford M A, Caruso R C, Csaky K G, Guo J, Gahl W A
National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892.
Am J Ophthalmol. 1994 Nov 15;118(5):569-82. doi: 10.1016/s0002-9394(14)76572-9.
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.
我们对一个患有比埃蒂结晶样视网膜病变的华裔美国家庭的三名患病成员进行了检查。将一名24岁先证者的临床特征与她祖母的临床发现进行了对比，我们对其祖母有26年的随访数据。祖母皮肤活检的淋巴细胞和成纤维细胞中含有结晶样溶酶体物质，这支持了诊断。对结晶样溶酶体物质的生化研究未能鉴定出储存的化合物，但也未显示它们是胆固醇或胆固醇酯。最后，针对这种情况进行的组织病理学研究显示全脉络膜视网膜萎缩晚期，在脉络膜成纤维细胞中可见晶体和复杂的脂质包涵体。
