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An atypical form of Bietti crystalline dystrophy.

机译：Bietti晶体营养不良的非典型形式。

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PURPOSE: To describe clinical and functional features of a patient with Bietti crystalline dystrophy and atypical electroretinogram responses. METHODS: The patient underwent a thorough medical anamnesis, genetic counseling, peripheral blood draw for CYP4V2 gene analysis and electron microscopy, and a complete ophthalmological assessment including optical coherence tomography, indocyanine green angiography, microperimetry, full-field electroretinogram and multifocal electroretinogram. RESULTS: The most striking features of the retina were deposits of yellowish-white glistening crystals and focal lobular areas of choriocapillary atrophy at the posterior pole and midperiphery. The full-field electroretinogram was normal and the multifocal electroretinogram showed extinguished central recordings. Mutation analysis revealed a homozygous c. 332T>C p.I111T mutation in exon 3 of the CYP4V2 gene. Typical cytoplasmic inclusions containing crystalline-like structure and large degenerative lysosomes were seen on electron microscopy of peripheral leukocytes. CONCLUSION: Here we describe a patient with Bietti crystalline dystrophy with a CYP4V2 gene mutation and typical leukocyte inclusions who showed the classical retinal lesions but had a normal electroretinogram. This suggests the existence of less severe forms of BCD related to relatively mild CYP4V2 mutations.
机译：目的：描述患有Bietti型晶体营养不良和非典型视网膜电图反应的患者的临床和功能特征。方法：对该患者进行了彻底的医学复查，遗传咨询，用于CYP4V2基因分析和电子显微镜的外周血抽取，以及完整的眼科评估，包括光学相干断层扫描，吲哚菁绿血管造影，显微视野检查，全视野视网膜电图和多焦点视网膜电图。结果：视网膜最显着的特征是黄白色闪闪发光的晶体沉积物和在后极和中周的脉络膜毛细血管萎缩的局灶性小叶区域。全视野视网膜电图正常，多焦点视网膜电图显示中央记录消失。突变分析表明是纯合的。 CYP4V2基因第3外显子的332T> C p.I111T突变。在外周血白细胞的电子显微镜下观察到典型的胞质内含物，其包含晶体样结构和大的变性溶酶体。结论：在此我们描述了一名患有CYP4V2基因突变且典型白细胞内含物的Bietti晶体营养不良患者，该患者显示出典型的视网膜病变但视网膜电图正常。这表明与相对较轻的CYP4V2突变有关的较轻形式的BCD的存在。

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