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

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.

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).

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.

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.