家族性渗出性玻璃体视网膜病变中中心凹发育不良的遗传特征和临床表现。

Genetic Characteristics and Clinical Manifestations of Foveal Hypoplasia in Familial Exudative Vitreoretinopathy.

机构信息

From the Department of Ophthalmology and Vision Science, Eye and ENT Hospital of Fudan University (Y.J., L.Z., F.G., Y.Z., T.C., L.R., Q.C., T.Z., X.H.), Shanghai, China; Key Laboratory of Myopia of State Health Ministry and Key Laboratory of Visual Impairment and Restoration of Shanghai (Y.J., L.Z., F.G., Y.Z., T.C., L.R., Q.C., T.Z., X.H.), Shanghai, China.

出版信息

Am J Ophthalmol. 2024 Jun;262:73-85. doi: 10.1016/j.ajo.2024.01.029. Epub 2024 Jan 26.

DOI:10.1016/j.ajo.2024.01.029

PMID:38280677

Abstract

PURPOSE

This study aimed to ascertain the occurrence of foveal hypoplasia (FH) in individuals diagnosed with familial exudative vitreoretinopathy (FEVR).

DESIGN

Retrospective cohort study.

METHODS

In this study, FEVR families and sporadic cases were diagnosed at the Eye and ENT Hospital, Fudan University, between 2017 and 2023. All patients attended routine ophthalmologic examinations and genetic screenings. The classification of FH was determined using optical coherence tomography (OCT) scans. The FH condition was classified into 2 subgroups: group A (FH being limited to the inner layers) and group B (FH affecting the outer layers). A total of 102 eyes from 58 patients were suitable for analysis.

RESULTS

Forty-nine mutations in LRP5, FZD4, NDP, TSPAN12, KIF11, CTNNB1, and ZNF408 were examined and detected, with 26 of them being novel. Forty-seven eyes (46.1%) revealed FH. The majority (53.2%) were due to the typical grade 1 FH. Patients with mutations in LRP5 and KIF11 were found to exhibit a higher prevalence of FH (P = .0088). Group B displayed the lowest visual acuity compared with group A (P = .048) and the group without FH (P < .001). The retinal arteriolar angle in group B was significantly smaller than in group A (P = .001) and those without FH (P < .001).

CONCLUSIONS

This study offers a new diagnostic approach and expands the spectrum of FEVR mutations. LRP5 and KIF11 were found to be more susceptible to causing FH in patients with FEVR. FEVR eyes with FH exhibited both greater visual impairment and reduced retinal arteriolar angles. The assessment of foveal status in patients with FEVR should be valued.

摘要

目的

本研究旨在确定患有家族性渗出性玻璃体视网膜病变（FEVR）的个体中是否存在黄斑发育不良（FH）。

设计

回顾性队列研究。

方法

本研究中，复旦大学附属眼耳鼻喉科医院于 2017 年至 2023 年间诊断出 FEVR 家族和散发病例。所有患者均接受常规眼科检查和基因筛查。使用光学相干断层扫描（OCT）扫描确定 FH 的分类。将 FH 情况分为 2 个亚组：A 组（FH 仅限于内层）和 B 组（FH 影响外层）。共有 58 名患者的 102 只眼适合分析。

结果

共检测到 LRP5、FZD4、NDP、TSPAN12、KIF11、CTNNB1 和 ZNF408 的 49 个突变，其中 26 个为新突变。47 只眼（46.1%）显示 FH。大多数（53.2%）为典型的 1 级 FH。LRP5 和 KIF11 突变患者 FH 发生率较高（P =.0088）。与 A 组（P =.048）和无 FH 组（P <.001）相比，B 组的视力最低。B 组的视网膜小动脉角度明显小于 A 组（P =.001）和无 FH 组（P <.001）。