北卡罗来纳黄斑营养不良患者黄斑部火山口样病变的可能发病机制。

The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy.

机构信息

Medical Retina, Eye Center of the Second Hospital of Jilin University, Room 304, 3Rd Floor, Out Patient Building, No.218, Ziqiang Street, Nanguan District, Changchun City, Jilin Province, China.

Eye Center of the Second Hospital of Jilin University, Changchun City, Jilin Province, China.

出版信息

BMC Ophthalmol. 2022 Nov 19;22(1):447. doi: 10.1186/s12886-022-02655-w.

DOI:10.1186/s12886-022-02655-w

PMID:36402981

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9675142/

Abstract

BACKGROUND

This study provides a detailed description of a Chinese family with North Carolina macular dystrophy (NCMD) and explores its possible pathogenesis.

METHODS

Five individuals from a three-generation family underwent general ophthalmic examination, multi-imaging examinations and visual electrophysiology examinations when possible. Genetic characterization was carried out by target region sequencing and high-throughput sequencing in affected patients.

RESULTS

Despite severe fundus changes, patients had relatively good visual acuity. Genetic analysis showed that affected patients had PRDM13 gene duplication and heterozygous mutations of the ABCA4 gene. Optical coherence tomography (OCT) showed an abnormal retinal pigment epithelium (RPE) layer in patients with grade 2 lesions, while the neurosensory retina was relatively normal. In grade 3 patients, RPE and choroid atrophy were greater than that of the neurosensory retina, showing concentric atrophy.

CONCLUSIONS

RPE and choroidal atrophy were found to play an important role in the development of macular caldera.

摘要

背景

本研究详细描述了一个具有北卡罗来纳黄斑营养不良（NCMD）的中国家系，并探讨了其可能的发病机制。

方法

对三代家系中的 5 名个体进行了全面的眼科检查、多种影像学检查和可能的视觉电生理学检查。对受影响的患者进行了靶向区域测序和高通量测序的基因特征分析。

结果

尽管眼底有严重的改变，但患者的视力相对较好。基因分析显示受影响的患者 PRDM13 基因发生了重复和 ABCA4 基因突变。光学相干断层扫描（OCT）显示 2 级病变患者的视网膜色素上皮（RPE）层异常，而神经感觉视网膜相对正常。在 3 级患者中，RPE 和脉络膜萎缩大于神经感觉视网膜，呈同心性萎缩。