回旋体萎缩的宽视场视网膜成像:结构、生化和功能特征的相关性。

IF 4.4 Q1 OPHTHALMOLOGY
Srikanta Kumar Padhy, Deepika C Parameswarappa, Sumant Sharma, Tapas Ranjan Padhi, Subhadra Jalali, Brijesh Takkar, Raja Narayanan
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引用次数: 0

摘要

目标:通过宽视场视网膜成像技术对一组回盲肌萎缩患者进行分类,并对其结构、生化和功能特征进行相关分析:通过宽视场视网膜成像对一组回旋肌萎缩患者进行分类,并对其结构、生化和功能特征进行相关分析:设计:回顾性观察队列研究:65名回盲肌萎缩患者(129只眼):方法:从电子病历(2015 年 1 月至 2023 年 12 月)中检索确诊回盲肌萎缩患者的数据。利用宽视场视网膜图像将视网膜受累情况分为三个区域。3区在赤道前方区域有萎缩斑块;2区受累范围仅限于弧区,但在赤道后方;1区受累范围在血管弧区和/或毛细血管周围区域,有或没有其他区域受累。使用扫描源 OCT 对黄斑进行评估(n=104)。测量血清鸟氨酸水平(35 例),并进行基因分析(18 例):主要结果指标:人口统计学、患者概况、视网膜受累区域、黄斑特征和血清鸟氨酸水平:患者平均年龄为 26.4 岁(5-67 岁),大多数为男性。最常见的症状是夜盲症(35 人,占 53.8%)和视力模糊(29 人,占 44.6%)。32.3%的患者有阳性家族史。77.14%的患者眼睛近视(69.8%163 μmol/L)。ERG显示,患者在散光和光照阶段的反应无记录(32人)或严重减弱(8人)。对18名患者进行的遗传分析发现了OAT基因突变,包括一个新的错义变体(c.290T>C):这一大型回旋肌萎缩患者群显示出对称性受累,主要位于1区。大多数患者的发病年龄在一至三十岁之间,有内斜视、视力下降、早期后囊下白内障和不同程度的近视。1 区受累与眼窝畸形和视力受损密切相关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Widefield Retinal Imaging in Gyrate Atrophy: Correlation of Structural, Biochemical, and Functional Characteristics.

Objective: To profile a cohort of gyrate atrophy patients classified by widefield retinal imaging and correlate the structural, biochemical, and functional characteristics.

Design: Retrospective observational cohort study.

Participants: Sixty-five patients (129 eyes) with gyrate atrophy.

Methods: Data of participants with a diagnosis of gyrate atrophy were retrieved from their electronic medical records (January 2015 to December 2023). Retinal involvement was classified into 3 zones using widefield retinal images. Zone 3 had atrophic patches in the area anterior to the equator; zone 2 had involvement limited to the arcades but posterior to the equator; zone 1 had involvement within the vascular arcades and/or peripapillary region, with or without any other zone involvement. Macular assessment was performed using swept-source OCT (n = 104). Flash electroretinogram (ERG) was performed in 40 eyes. Serum ornithine levels (n = 35) were measured, and genetic analysis was conducted (n = 18).

Main outcome measures: Demography, patient profile, zone of retina involved, macular features, and serum ornithine levels.

Results: The average age at presentation was 26.4 (range, 5-67) years; the majority were male. Nyctalopia (n = 35, 53.8%) and blurred vision (n = 29, 44.6%) were the most common symptoms. Positive family history was reported in 32.3% of patients. Most eyes were myopic (69.8% <-3 diopters). Posterior subcapsular cataracts were documented in 36.4% of eyes. The highest frequency of retinal area affected was zone 1 (57.14%), followed by zone 2 (33.33%) and zone 3 (9.52%), correlating with the age at presentation. Foveoschisis was observed in 57.7% of eyes, with a higher prevalence in eyes with zone 1 disease. Elevated serum ornithine levels (>163 μmol/L) were found in 77.14% of patients. The ERG showed nonrecordable (n = 32) or severely reduced (n = 8) responses in scotopic and photopic phases. Genetic analysis of 18 patients identified mutations in the OAT gene, including a novel missense variant (c.290T>C).

Conclusions: This large cohort of patients with gyrate atrophy revealed symmetrical involvement, predominantly in zone 1. Most patients presented between the first and third decades, experienced nyctalopia, vision reduction, early posterior subcapsular cataracts, and varying degrees of myopia. Zone 1 involvement was strongly associated with foveoschisis and visual compromise.

Financial disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

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来源期刊
Ophthalmology. Retina
Ophthalmology. Retina Medicine-Ophthalmology
CiteScore
7.80
自引率
6.70%
发文量
274
审稿时长
33 days
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