脆性内缘膜黄斑病变是一种新的视网膜阿尔波特样病变,在三代女性中有两种变体。

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY
Ophthalmic Genetics Pub Date : 2024-06-01 Epub Date: 2024-01-10 DOI:10.1080/13816810.2023.2294844
Sekita Dalsgård Petersen, Mohamed Belmouhand, Jens Michael Hertz, Christina Fagerberg, Charlotte Brasch-Andersen, Jakob Grauslund, Francis L Munier, Michael Larsen
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引用次数: 0

摘要

背景:我们报告了一个三代同堂的家族,他们患有孤立的阿尔波特样视网膜异常,但没有眼睑外翻、听力损失、肾脏疾病,已知的阿尔波特相关基因也没有可检测到的分子遗传缺陷:临床检查包括眼部生物显微镜检查、眼底照相、光学相干断层扫描、尿液检测、血清肌酐评估和分子遗传分析:结果:原告、其母亲和外祖母的双眼最佳矫正视力和视野均正常。她的双眼黄斑呈花瓣状阶梯状,血管稀少;她的母亲和外祖母的颞部黄斑平坦,缺乏眼窝血管缺失区。她的家庭成员中没有人出现肾脏症状、不明原因的听力异常或眼睑下垂。测序和 MLPA 发现,COL4A3、COL4A4 和 COL4A5 均无缺陷。基因周围±1Mb的常见SNP没有显示出分离现象。此外,受影响个体之间在与眼病相关的基因小组中的基因以及全外显子组和基因组测序中共享的变异均不能解释这种表型:结论:发现了一种具有两种视网膜阿尔波特样表型的新病症。没有发现肾脏和晶状体异常,也没有发现与阿尔波特综合征相关的 IV 型胶原蛋白基因异常。手术切除视网膜内缘膜后发现的视网膜异常与此相似,这表明缺陷就在此处。因此,我们建议用 "脆弱内缘膜黄斑病变 "这一新定义来描述新的视网膜表型和类似表型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females.

Background: We report a three-generation family with isolated Alport-like retinal abnormalities in the absence of lenticonus, hearing loss, kidney disease, and detectable molecular genetic defects in known Alport-related genes.

Methods: Clinical examination includes ocular biomicroscopy, fundus photography, optical coherence tomography, dipstick urinalysis, serum creatinine assessment, and molecular genetic analysis.

Results: The proband, her mother, and her maternal grandmother had normal best-corrected visual acuity and normal visual fields in both eyes. The macula presented a petaloid stair-case profile with scarce vessels in both eyes of the proband and a flat temporal macula lacking a foveal avascular zone in her mother and her grandmother. No family member had renal symptoms, unexplained subnormal hearing, or lenticonus. Sequencing and MLPA found no defect in COL4A3, COL4A4, and COL4A5. Common SNPs around the genes ± 1Mb showed no segregation. Furthermore, none of the variants shared between the affected individuals in genes from a gene panel of genes relevant for ophthalmopathy nor whole exome- and genome sequencing explained the phenotype.

Conclusion: A new condition with two retinal Alport-like phenotypes was found. No abnormalities of the kidneys and lens were found, neither abnormalities of the type IV collagen genes related to Alport syndrome. Homology with retinal abnormalities seen in patients after surgical removal of the inner limiting membrane of the retina suggests that this is where the defect is located. We therefore suggest that the new retinal phenotypes and similar phenotypes can be described with the new definition "frail inner limiting membrane maculopathy."

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来源期刊
Ophthalmic Genetics
Ophthalmic Genetics 医学-眼科学
CiteScore
2.40
自引率
8.30%
发文量
126
审稿时长
>12 weeks
期刊介绍: Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
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