<i>WDR19</i> -associated retinopathy presenting with adult-onset Stargardt-like phenotype
Biallelic variants in the <i>WDR19</i> 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 <i>ABCA4</i>.
Authors
- Alessandro Arrigo (ORCID: https://orcid.org/0000-0003-4715-8414)
- Angelina Nunziata (ORCID: https://orcid.org/0000-0002-9946-7334)
- Alessio Antropoli (ORCID: https://orcid.org/0000-0001-9630-0830)
- Maurízio Battaglia Parodi (ORCID: https://orcid.org/0000-0002-0385-7961)
- Francesco Bandello (ORCID: https://orcid.org/0000-0003-3238-9682)
- Lorenzo Bianco (ORCID: https://orcid.org/0000-0002-4023-5387)
- Paola Carrera (ORCID: https://orcid.org/0000-0001-7376-2119)
- Gabriella Doddato
- Sebastiano Del Fabbro
Institutions
- Vita-Salute San Raffaele University (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele (IT)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-02-18
- DOI
- https://doi.org/10.1080/13816810.2025.2463145
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00