Year: 2025
Type: article
Study design: Case Report
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.
Source: Ophthalmic Genetics
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4407719290