Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City.
Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City.
JAMA Ophthalmol. 2023 Sep 1;141(9):872-879. doi: 10.1001/jamaophthalmol.2023.3535.
The p.Asp67Tyr genetic variant in the GJA3 gene is responsible for congenital cataracts in a family with a high incidence of glaucoma following cataract surgery.
To describe the clinical features of a family with a strong association between congenital cataracts and glaucoma following cataract surgery secondary to a genetic variant in the GJA3 gene (NM_021954.4:c.199G>T, p.Asp67Tyr).
DESIGN, SETTING, AND PARTICIPANTS: This was a retrospective, observational, case series, genetic association study from the University of Iowa spanning 61 years. Examined were the ophthalmic records from 1961 through 2022 of the family members of a 4-generation pedigree with autosomal dominant congenital cataracts.
Frequency of glaucoma following cataract surgery and postoperative complications among family members with congenital cataract due to the p.Asp67Tyr GJA3 genetic variant.
Medical records were available from 11 of 12 family members (7 male [63.6%]) with congenital cataract with a mean (SD) follow-up of 30 (21.7) years (range, 0.2-61 years). Eight of 9 patients with congenital cataracts developed glaucoma, and 8 of 8 patients who had cataract surgery at age 2 years or younger developed glaucoma following cataract surgery. The only family member with congenital cataracts who did not develop glaucoma had delayed cataract surgery until 12 and 21 years of age. Five of 11 family members (45.5%) had retinal detachments after cataract extraction and vitrectomy. No patients developed retinal detachments after prophylactic 360-degree endolaser.
The GJA3 genetic variant, p.Asp67Tyr, was identified in a 4-generation congenital cataract pedigree from Iowa. This report suggests that patients with congenital cataract due to some GJA3 genetic variants may be at especially high risk for glaucoma following cataract surgery. Retinal detachments after cataract extraction in the first 2 years of life were also common in this family, and prophylactic retinal endolaser may be indicated at the time of surgery.
GJA3 基因中的 p.Asp67Tyr 遗传变异导致一个家族在白内障手术后发生青光眼的发病率很高。
描述一个家族的临床特征，该家族的先天性白内障与白内障手术后青光眼之间存在很强的关联，其原因是 GJA3 基因中的遗传变异（NM_021954.4:c.199G>T，p.Asp67Tyr）。
设计、设置和参与者：这是一项回顾性、观察性、病例系列遗传关联研究，由爱荷华大学进行，时间跨度为 61 年。研究对象为一个四代同堂的家族成员的眼科记录，该家族存在常染色体显性遗传性先天性白内障。
p.Asp67Tyr GJA3 基因突变导致的先天性白内障患者中白内障手术后青光眼的发生频率和术后并发症。
共有 12 名家族成员中的 11 名（7 名男性[63.6%]）的医疗记录可用，平均（SD）随访时间为 30（21.7）年（范围，0.2-61 年）。9 名先天性白内障患者中有 8 名发生了青光眼，8 名 2 岁或以下行白内障手术的患者在白内障手术后均发生了青光眼。唯一未发生青光眼的先天性白内障患者因白内障延迟至 12 岁和 21 岁时才进行手术。11 名家族成员中有 5 名（45.5%）在白内障摘除和玻璃体切除术后发生视网膜脱离。没有患者在预防性 360 度内激光治疗后发生视网膜脱离。
在爱荷华州的一个四代先天性白内障家系中发现了 GJA3 基因变异，p.Asp67Tyr。本报告提示，一些 GJA3 基因突变导致的先天性白内障患者可能特别容易在白内障手术后发生青光眼。该家族中，2 岁以内白内障摘除术后视网膜脱离也很常见，手术时可能需要预防性视网膜内激光治疗。
