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Abstract：
The rare form of retinal dystrophy, Bietti crystalline dystrophy, is associated with variations in CYP4V2, a member of the cytochrome P450 family. This study reports patients affected by typical and atypical Bietti crystalline dystrophy, expanding the spectrum of this disease. This is an observational case series of patients with a clinical and molecular diagnosis of Bietti crystalline dystrophy that underwent multimodal imaging. Four unrelated patients are described with two known variants, c.802-8_810del17insGC and c.518T > G (p.Leu173Trp), and one novel missense variant, c.1169G > T (p.Arg390Leu). The patient with the novel homozygous variant had the most severe phenotype resulting in macular hole formation and retinal detachment in both eyes. To the best of our knowledge, there is no association of these features with Bietti crystalline dystrophy. Patient 1 was the youngest patient and had the mildest phenotype with crystals in the retina without chorioretinal atrophy and visual complaints. Patients 2 and 3 presented with fewer crystals and chorioretinal atrophy. These three patients presented a classic phenotype. The fourth patient presented with an atypical and severe phenotype. This study reveals a new genotype and new phenotype associated with this disorder.
摘要：
罕见的视网膜营养不良,Bietti晶体营养不良,与细胞色素P450家族成员CYP4V2的变异相关。这项研究报告了受典型和非典型Bietti晶体营养不良影响的患者，扩大这种疾病的范围。这是一个观察性病例系列，对临床和分子诊断为Bietti晶体营养不良的患者进行了多模态成像。描述了四个无关的患者有两个已知的变体，c.802-8_810del17insGC和c.518T>G（p。Leu173Trp），和一个新颖的错觉变体，c.1169G>T（p。Arg390Leu）。具有新型纯合变体的患者具有最严重的表型，导致双眼黄斑裂孔形成和视网膜脱离。据我们所知,这些特征与Bietti晶体营养不良无关.患者1是最年轻的患者，具有最温和的表型，视网膜中有晶体，没有脉络膜视网膜萎缩和视觉不适。患者2和3表现为晶体和脉络膜视网膜萎缩较少。这三名患者呈现经典表型。第四例患者表现为非典型和严重表型。这项研究揭示了与这种疾病相关的新基因型和新表型。
