The central retinal thickness and its related genotype in ABCA4-related retinopathy

期刊论文
发表日期：

2024年5月13日

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Yimin Wang,
Tong Li,
Suqin Yu,
Yuanyuan Gong,
Min Zhang,
Yidong Wu,
Wenjia Liu,
Junran Sun,
Jieqiong Chen,
Xiaodong Sun,
Xiaodong Sun,
Suqin Yu,
Yuanyuan Gong,
Jieqiong Chen,
Wenjia Liu,
Xiaoling Wan,
Tong Li,
Yang Yu,
Huixun Jia,
Fei Yuan,
Yimin Wang,
Xi Shen,
Zhiliang Wang,
Tong Qiao,
Qiang Wu,
Yu Xu,
Chaoyang Wang,
Chenhao Yang,
Jifang Qu,
Jianjun Chen

摘要

Purpose

To further explore the influence of genotype, including mutation type and structural domain, on the severity of macular atrophy, we measured the central retinal thickness (CRT) in patients with ABCA4-related retinopathy.

Methods

A total of 66 patients were included in the cohort. This was a retrospective investigation. The patients were tested using whole exon sequencing and ophthalmic exams, including slip lamp exams, best-corrected visual acuity, optical coherence tomography, fundus photo, and fundus autofluorescence.

Results

In this study, we discovered that mutations on nucleotide binding domains (NBD) lead to less CRT (45.00 ± 25.25μm, 95% CI: 31.54–58.46) had significantly less CRT than the others (89.75 ± 71.17μm, 95% CI: 30.25–149.25, p = 0.032), and could accelerate the rate of CRT decrease.

Conclusions

Our study provides new perspectives in the understanding of ABCA4-related retinopathy.