Abstract：
OBJECTIVE: This study aimed to ascertain the occurrence of foveal hypoplasia (FH) in individuals diagnosed with familial exudative vitreoretinopathy (FEVR).
METHODS: 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.
METHODS: 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：本研究旨在确定诊断为家族性渗出性玻璃体视网膜病变（FEVR）的个体中中央凹发育不全（FH）的发生。
方法：回顾性队列研究。
方法：在本研究中，FEVR家庭和零星病例在眼科和耳鼻喉科医院被诊断出，复旦大学,2017年至2023年。所有患者都接受了常规眼科检查和基因筛查。使用OCT扫描确定FH的分类。FH条件分为两个子组：A组（FH限于内层），和B组(影响外层的FH)。58例患者共102只眼适合分析。
结果：LRP5，FZD4，NDP，对TSPAN12、KIF11、CTNNB1和ZNF408进行检测,其中26个是小说。47只眼睛（46.1％）显示FH。大多数（53.2％）归因于典型的1级FH。发现LRP5和KIF11突变的患者表现出更高的FH患病率（P=0.0088）。与A组（P=0.048）和无FH组（P<0.001）相比，B组的视力最低。B组视网膜小动脉角明显小于A组(P=0.001)和无FH组(P<0.001)。
结论：这项研究提供了一种新的诊断方法，并扩展了FEVR突变的范围。发现LRP5和KIF11在FEVR患者中更容易引起FH。FH的FEVR眼睛表现出更大的视力障碍和减少的视网膜小动脉角。应重视FEVR患者中央凹状态的评估。
方法：回顾性队列研究。
方法：在本研究中，FEVR家庭和零星病例在眼科和耳鼻喉科医院被诊断出，复旦大学,2017年至2023年。所有患者都接受了常规眼科检查和基因筛查。使用OCT扫描确定FH的分类。FH条件分为两个子组：A组（FH限于内层），和B组(影响外层的FH)。58例患者共102只眼适合分析。
结果：LRP5，FZD4，NDP，对TSPAN12、KIF11、CTNNB1和ZNF408进行检测,其中26个是小说。47只眼睛（46.1％）显示FH。大多数（53.2％）归因于典型的1级FH。发现LRP5和KIF11突变的患者表现出更高的FH患病率（P=0.0088）。与A组（P=0.048）和无FH组（P<0.001）相比，B组的视力最低。B组视网膜小动脉角明显小于A组(P=0.001)和无FH组(P<0.001)。
结论：这项研究提供了一种新的诊断方法，并扩展了FEVR突变的范围。发现LRP5和KIF11在FEVR患者中更容易引起FH。FH的FEVR眼睛表现出更大的视力障碍和减少的视网膜小动脉角。应重视FEVR患者中央凹状态的评估。
