利用Scheimpflug显像评估早期Fuchs角膜内皮营养不良和CTG三核苷酸扩增阳性

IF 3.2 Q1 OPHTHALMOLOGY

Ophthalmology science Pub Date : 2025-05-20 DOI:10.1016/j.xops.2025.100830

Stanley S.J. Poh MBBS , Kai Yuan Tey MBBS , Gary S.L. Peh PhD , Dawn J.H. Neo MSc , Hla Myint Htoon PhD , Evan K.L. Lee , Yu Qiang Soh MBBS , V Vinod Mootha MD , Jodhbir S. Mehta PhD

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引用次数: 0

摘要

目的评价早期Fuchs内皮性角膜营养不良（FECD）患者角膜密度和光学像差的变化，并探讨其与CTG三核苷酸重复扩增的关系。设计：回顾性横断面研究。纳入2018年至2022年间诊断的富克斯内皮性角膜营养不良眼。对照眼取自接受白内障手术的健康个体。方法所有眼行Scheimpflug显像。亚临床水肿的定义是存在以下≥2个特征：(1)平行等压线丧失；(2)最薄点位移；(3)局灶性后凹陷。对一部分FECD受试者进行CTG重复扩增基因分型。主要观察指标对角膜密度测定、高阶像差（HOA）和角膜厚度测定进行量化。测量3层（前120 μm，中央和后60 μm）和4个同心环空内的密度，同时分别分析前、后角膜的HOA。结果共纳入FECD病例108例，对照组59例。与没有水肿的眼睛相比，亚临床水肿的眼睛在所有角膜层和区域表现出明显更高的密度和HOA (P <；0.01)。亚临床水肿与角膜后角HOA升高（β = 15.068, 95%可信区间[CI]: 7.546-22.590）和各层0 - 2mm角膜环中央密度升高独立相关。在基因型眼中，22只（44.0%）的CTG扩张呈阳性，这与中央0至2 mm环的前（β = - 4.59, 95% CI: - 7.28至- 1.92）、中央（β = - 1.76, 95% CI: - 2.79至- 0.74）和后（β = - 3.05, 95% CI: - 5.67至- 0.44）层的密度测定较低有关。结论fuchs内皮性角膜营养不良伴亚临床水肿的眼与角膜密度和HOA升高相关，提示早期结构和光学改变。相反，CTG重复扩增的存在与角膜中央密度测定降低相关，提示可能存在不同的疾病表型。财务披露专有或商业披露可在本文末尾的脚注和披露中找到。

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Assessment of Early Fuchs Endothelial Corneal Dystrophy and CTG Trinucleotide Expansion Positivity Using Scheimpflug Imaging

Purpose

To evaluate changes in corneal densitometry and optical aberrations using Scheimpflug imaging in early Fuchs endothelial corneal dystrophy (FECD) and to assess their association with CTG trinucleotide repeat expansion.

Design

Retrospective cross-sectional study.

Subjects

Fuchs endothelial corneal dystrophy eyes diagnosed between 2018 and 2022 were included. Control eyes were recruited from healthy individuals undergoing cataract surgery.

Methods

All eyes underwent Scheimpflug imaging. Subclinical edema was defined by the presence of ≥2 of the following features: (1) loss of parallel isopachs; (2) displacement of the thinnest point; and (3) focal posterior depression. A subset of FECD subjects was genotyped for CTG repeat expansion.

Main Outcome Measures

Corneal densitometry, higher-order aberration (HOA), and pachymetry were quantified. Densitometry was measured across 3 layers (anterior 120 μm, central, and posterior 60 μm) and within 4 concentric annuli while HOA was analyzed separately for the anterior and posterior cornea.

Results

One hundred eight FECD cases and 59 controls were included. Eyes with subclinical edema exhibited significantly higher densitometry and HOA across all corneal layers and zones compared with those without edema (all P < 0.01). Subclinical edema was independently associated with increased posterior corneal HOA (β = 15.068, 95% confidence interval [CI]: 7.546–22.590) and elevated densitometry in the central 0 to 2 mm annulus across all layers. Among genotyped eyes, 22 (44.0%) were positive for CTG expansion, which was associated with lower densitometry in the anterior (β = −4.59, 95% CI: −7.28 to −1.92), central (β = −1.76, 95% CI: −2.79 to −0.74), and posterior (β = −3.05, 95% CI: −5.67 to −0.44) layers of the central 0 to 2 mm annulus.

Conclusions

Fuchs endothelial corneal dystrophy eyes with subclinical edema are associated with increased corneal densitometry and HOA, indicating early structural and optical changes. In contrast, the presence of CTG repeat expansion was correlated with reduced central corneal densitometry, suggesting a potentially distinct disease phenotype.