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Abstract：
UNASSIGNED: Whereas crystals deposit in the retina, the cornea and limbus in Bietty corneo-retinal dystrophy (BCD) is now well established and documented, only two published cases report their findings in the lens and no cases deep in the lens cortex.
UNASSIGNED: Four consecutive adult patients from three different unrelated families presenting lens crystals associated with advanced genetically confirmed BCD were enrolled with advanced disease and long follow up (>12 years). Demographics, visual acuity, slit lamp biomicroscopy, lens and posterior pole photography, optical coherence tomography (OCT), autofluorescence, and screening for CYP4V2 type of mutation were performed. The setting was Jules Gonin Eye Hospital, Switzerland, between 1.1 2013 and 1.11. 2019.
UNASSIGNED: All patients were European women. The ages ranged from 40 to 81 years. Best Snellen visual acuity ranged from light perception to 1.0. All patients presented with limbus and retinal crystals deposit that disappeared over time and the development of severe chorioretinal atrophy. With long-term follow up, multiple crystal-like deposits appeared in the anterior, posterior lens capsule and cortex. All patients, but one, had homozygous or compound heterozygous mutations in CYP4V2 gene.
UNASSIGNED: To the best of our knowledge, there are no published cases of crystal deposits in the cortex of the lens of patients diagnosed with BCD associated with CYP4V2 gene mutation. This could be a feature of advanced BCD, and their presence in the lens cortex questions the hypothesis of floating deposits from posterior pole although their exact etiology remains to be determined.
UNASSIGNED: Four consecutive adult patients from three different unrelated families presenting lens crystals associated with advanced genetically confirmed BCD were enrolled with advanced disease and long follow up (>12 years). Demographics, visual acuity, slit lamp biomicroscopy, lens and posterior pole photography, optical coherence tomography (OCT), autofluorescence, and screening for CYP4V2 type of mutation were performed. The setting was Jules Gonin Eye Hospital, Switzerland, between 1.1 2013 and 1.11. 2019.
UNASSIGNED: All patients were European women. The ages ranged from 40 to 81 years. Best Snellen visual acuity ranged from light perception to 1.0. All patients presented with limbus and retinal crystals deposit that disappeared over time and the development of severe chorioretinal atrophy. With long-term follow up, multiple crystal-like deposits appeared in the anterior, posterior lens capsule and cortex. All patients, but one, had homozygous or compound heterozygous mutations in CYP4V2 gene.
UNASSIGNED: To the best of our knowledge, there are no published cases of crystal deposits in the cortex of the lens of patients diagnosed with BCD associated with CYP4V2 gene mutation. This could be a feature of advanced BCD, and their presence in the lens cortex questions the hypothesis of floating deposits from posterior pole although their exact etiology remains to be determined.
摘要：
■而晶体沉积在视网膜中，Bietty角膜视网膜营养不良（BCD）中的角膜和角膜缘现在已经建立和记录，只有两个已发表的病例报告了他们在晶状体中的发现，没有病例在晶状体皮层深处。
■来自三个不同的不相关家庭的4名连续成年患者出现与晚期遗传证实的BCD相关的晶状体晶体，纳入晚期疾病和长期随访（>12年）。人口统计,视敏度,裂隙灯生物显微镜，镜头和后极摄影，光学相干断层扫描(OCT),自发荧光,并筛选CYP4V2型突变。设置是朱尔斯·戈宁眼科医院，瑞士,在2013年的1.1和1.11之间。2019.
■所有患者均为欧洲女性。年龄从40岁到81岁不等。最佳Snellen视力范围从光感知到1.0。所有患者均出现角膜缘和视网膜晶体沉积，随着时间的流逝而消失，并发展为严重的脉络膜视网膜萎缩。长期随访,多个晶体样沉积物出现在前部，晶状体后囊和皮质。所有患者,但是一个,CYP4V2基因存在纯合或复合杂合突变。
■据我们所知,在被诊断为与CYP4V2基因突变相关的BCD患者的晶状体皮质中,没有公开的晶体沉积病例.这可能是高级BCD的一个特征，尽管它们的确切病因尚待确定，但它们在晶状体皮层中的存在对从后极漂浮沉积物的假设提出了质疑。
■来自三个不同的不相关家庭的4名连续成年患者出现与晚期遗传证实的BCD相关的晶状体晶体，纳入晚期疾病和长期随访（>12年）。人口统计,视敏度,裂隙灯生物显微镜，镜头和后极摄影，光学相干断层扫描(OCT),自发荧光,并筛选CYP4V2型突变。设置是朱尔斯·戈宁眼科医院，瑞士,在2013年的1.1和1.11之间。2019.
■所有患者均为欧洲女性。年龄从40岁到81岁不等。最佳Snellen视力范围从光感知到1.0。所有患者均出现角膜缘和视网膜晶体沉积，随着时间的流逝而消失，并发展为严重的脉络膜视网膜萎缩。长期随访,多个晶体样沉积物出现在前部，晶状体后囊和皮质。所有患者,但是一个,CYP4V2基因存在纯合或复合杂合突变。
■据我们所知,在被诊断为与CYP4V2基因突变相关的BCD患者的晶状体皮质中,没有公开的晶体沉积病例.这可能是高级BCD的一个特征，尽管它们的确切病因尚待确定，但它们在晶状体皮层中的存在对从后极漂浮沉积物的假设提出了质疑。
