PDF(Pubmed)
Abstract：
Bietti crystalline dystrophy (BCD) is a rare, genetically determined chorioretinal dystrophy presenting with intraretinal crystalline deposits and varying degrees of progressive chorioretinal atrophy commencing at the posterior pole. In some cases, there can be concomitant corneal crystals noted first in the superior or inferior limbus. CYP4V2 gene, a member of the cytochrome P450 family is responsible for the disease and more than 100 mutations have been defined thus far. However, a genotype-phenotype correlation has not been established yet. Visual impairment commonly occurs between the second and third decades of life. By the fifth or sixth decade of life, vision loss can become so severe that the patient may potentially become legally blind. Multitudes of multimodal imaging modalities can be utilized to demonstrate the clinical features, course, and complications of the disease. This present review aims to reiterate the clinical features of BCD, update the clinical perspectives with the help of multimodal imaging techniques, and overview its genetic background with future therapeutic approaches.
摘要：
Bietti晶体营养不良（BCD）是一种罕见的，遗传决定的脉络膜视网膜营养不良表现为视网膜内结晶沉积和不同程度的进行性脉络膜视网膜萎缩开始于后极。在某些情况下,首先在上或下角膜缘可能出现伴随的角膜晶体。CYP4V2基因,细胞色素P450家族的一个成员是该疾病的主要原因,迄今为止已经确定了超过100个突变.然而,基因型-表型相关性尚未建立.视力损害通常发生在生命的第二个和第三个十年之间。到生命的第五个或第六个十年，视力丧失可能变得如此严重，以至于患者可能会成为法律上的盲人。可以利用多种多模态成像模式来展示临床特征，当然,和疾病的并发症。本综述旨在重申BCD的临床特征，在多模态成像技术的帮助下更新临床观点，并概述其遗传背景和未来的治疗方法。
