WDR19-associated retinopathy presenting with adult-onset Stargardt-like phenotype.

IF 1 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2025-06-01 Epub Date: 2025-02-18 DOI:10.1080/13816810.2025.2463145

Annamaria Nunziata, Alessio Antropoli, Lorenzo Bianco, Sebastiano Del Fabbro, Alessandro Arrigo, Gabriella Doddato, Paola Carrera, Francesco Bandello, Maurizio Battaglia Parodi

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引用次数: 0

Abstract

Background: Pathogenic variants in the WDR19 gene are linked to a spectrum of ciliopathies, which can present with ophthalmic symptoms. In this study, we describe the multimodal imaging findings of a patient with an adult-onset Stargardt-like phenotype associated with biallelic WDR19 variants.

Methods: The patient underwent a comprehensive ophthalmologic evaluation, including slit-lamp examination, optical coherence tomography (OCT), fundus autofluorescence (FAF), and OCT-angiography (OCTA). Genetic testing was conducted using next-generation sequencing (NGS).

Results: The patient carried the WDR19 p.(Arg477Leu) missense variant (class 3) in trans with the c.1777 + 1delG splice variant (class 4), never described before in association with a clinical phenotype. Multimodal imaging revealed bilateral areas of definitely decreased autofluorescence (DDAF), which progressively expanded over time. Additionally, bilateral thickening of the ellipsoid zone and intraretinal cysts in the left eye were observed.

Conclusions: Biallelic variants in the WDR19 gene can cause an autosomal recessive, adult-onset Stargardt-like phenotype. Ophthalmologists should consider this as possible molecular differential diagnosis when encountering atypical features on multimodal imaging in cases with negative genetic testing for ABCA4.

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wdr19相关视网膜病变表现为成人发病的stargardt样表型。

背景：WDR19基因的致病性变异与一系列纤毛病有关，这些纤毛病可伴有眼部症状。在这项研究中，我们描述了一名与双等位基因WDR19变异相关的成人发病stargardt样表型患者的多模态成像结果。方法：对患者进行全面的眼科检查，包括裂隙灯检查、光学相干断层扫描（OCT）、眼底自体荧光（FAF）和OCT血管造影（OCTA）。采用新一代测序（NGS）进行基因检测。结果：患者携带WDR19 p.（Arg477Leu）错义变体（3类）和c.1777 + 1delG剪接变体（4类），以前从未报道过与临床表型相关。多模态成像显示双侧自身荧光（DDAF）明显下降，随时间逐渐扩大。左眼双侧椭球区增厚，视网膜内囊肿。结论：WDR19基因的双等位变异可导致常染色体隐性，成人发病的stargardt样表型。当ABCA4基因检测阴性的病例在多模态影像学上遇到非典型特征时，眼科医生应将此作为可能的分子鉴别诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

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.