Phenotypic and Genotypic Characterization of <i>RP1L1</i>-Associated Retinopathy
Mutations in RP1L1 cause a spectrum of diseases, including autosomal dominant OMD, autosomal recessive OMD, and autosomal recessive rod-cone dystrophies, occasionally presenting with pseudovitelliform maculopathy.
Authors
- Isabelle S. Audo (ORCID: https://orcid.org/0000-0003-0698-5309)
- Alessio Antropoli (ORCID: https://orcid.org/0000-0001-9630-0830)
- Xavier Zanlonghi (ORCID: https://orcid.org/0000-0003-4460-5346)
- Lorenzo Bianco (ORCID: https://orcid.org/0000-0002-4023-5387)
- José‐Alain Sahel (ORCID: https://orcid.org/0000-0002-4831-1153)
- Claire‐Marie Dhaenens (ORCID: https://orcid.org/0000-0003-4719-4124)
- Christina Zeitz (ORCID: https://orcid.org/0000-0002-3510-1712)
- Christel Condroyer (ORCID: https://orcid.org/0009-0000-6189-0906)
- Amine Benadji
- Aline Antonio (ORCID: https://orcid.org/0000-0001-5942-9555)
- Julien Navarro (ORCID: https://orcid.org/0009-0000-0448-5461)
Institutions
- Centre National de la Recherche Scientifique (FR)
- Institut de la Vision (FR)
- Vita-Salute San Raffaele University (IT)
- Inserm (FR)
- University of Pittsburgh (US)
- Université de Lille (FR)
- Centre hospitalier national d'ophtalmologie des Quinze-Vingts (FR)
- Centre Hospitalier Universitaire de Lille (FR)
- Sorbonne Université (FR)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Centre Hospitalier Universitaire de Rennes (FR)
- Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele (IT)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-04-02
- DOI
- https://doi.org/10.1167/iovs.66.4.7
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Agence Nationale de la Recherche
- Institut National de la Santé et de la Recherche Médicale
- Centre National de la Recherche Scientifique
- Novartis Pharma
- Janssen Pharmaceuticals