RTN4IP1-associated non-syndromic optic neuropathy and rod-cone dystrophy.

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY
Ophthalmic Genetics Pub Date : 2024-06-01 Epub Date: 2024-01-15 DOI:10.1080/13816810.2024.2303683
Priya R Gupta, Kaitlin O'Connell, Jack M Sullivan, Rachel M Huckfeldt
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引用次数: 0

Abstract

Background: Biallelic variants in RTN4IP1 are a well-established cause of syndromic and nonsyndromic early-onset autosomal recessive optic neuropathy. They have more recently been reported to cause a concomitant but later-onset rod-cone dystrophy with or without syndromic features.

Methods: A comprehensive evaluation was performed that included assessment of visual and retinal function, clinical examination, and retinal imaging. Childhood ophthalmic records as well as the results of genetic testing were evaluated.

Results: A 24-year-old female described longstanding reduced visual acuity with more recent subjective impairment of dark adaptation. Visual acuity was subnormal in both eyes. Goldmann kinetic perimetry demonstrated scotomas in a pattern consistent with the presence of both optic neuropathy and rod-cone dystrophy with fundus exam as well as retinal imaging showing corroborating findings. Full-field electroretinography further confirmed the presence of a rod-cone dystrophy. Genetic testing demonstrated biallelic variants in RTN4IP1, one of which was novel, in association with the ocular findings.

Conclusions: RTN4IP1-associated early-onset bilateral optic neuropathy with rod-cone dystrophy is a recently described clinical entity with limited reports available to-date. The present case provides additional support for this dual phenotype and identifies a novel causative variant.

与 RTN4IP1 相关的非综合征性视神经病变和杆锥体营养不良症。
背景:RTN4IP1的双叶变体是综合征和非综合征性早发常染色体隐性视神经病变的公认病因。最近有报道称,这些变异可导致伴发但晚发的杆状锥体营养不良症,并伴有或不伴有综合征特征:方法:对患者进行全面评估,包括视力和视网膜功能评估、临床检查和视网膜成像。对儿童时期的眼科记录以及基因检测结果进行了评估:一名 24 岁女性的视力长期下降,最近主观感觉暗适应能力受损。双眼视力均不正常。戈德曼动力学视力测定法显示,视网膜上出现了与视神经病变和杆状视网膜营养不良症模式一致的焦斑,眼底检查和视网膜成像显示了确凿的结果。全场视网膜电图进一步证实了该患者患有视杆细胞营养不良症。基因检测显示,RTN4IP1的双倍变体(其中一个是新变体)与眼部检查结果有关:结论:与 RTN4IP1 相关的早发性双侧视神经病变伴杆-锥体营养不良症是最近描述的一种临床实体,迄今为止报道有限。本病例为这种双重表型提供了更多支持,并确定了一种新型致病变体。
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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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