INHERITED RETINAL DISEASE GENE PANEL IN POSTERIOR OR PANUVEITIS WITH DYSTROPHIC FEATURES
Inherited retinal disease gene panel analysis allowed diagnosis refinement in 3/12 (25%) patients in the PUD cohort, all belonging to the PURPL subgroup. The authors recommend that all patients with PURPL benefit from gene panel testing to avoid overlooking undiagnosed IRDs.
Authors
- Bart P. Leroy (ORCID: https://orcid.org/0000-0002-9899-2081)
- Stéphane Abramowicz (ORCID: https://orcid.org/0000-0002-4450-3211)
- Laure Caspers
- D. Draganova
- Laurence Dominique Postelmans (ORCID: https://orcid.org/0000-0001-5333-3077)
- Stijn Van de Sompele (ORCID: https://orcid.org/0000-0002-3294-0668)
- Elfride De Baere (ORCID: https://orcid.org/0000-0002-5609-6895)
- Marieke De Bruyne (ORCID: https://orcid.org/0000-0001-6636-5537)
- Audrey Meunier
- François Willermain
Institutions
- Université Libre de Bruxelles (BE)
- Children's Hospital of Philadelphia (US)
- Ghent University Hospital (BE)
- Centre Hospitalier Universitaire de Saint-Pierre (BE)
Publication Details
- Journal
- Retina
- Published
- 2024-11-21
- DOI
- https://doi.org/10.1097/iae.0000000000004329
- Citations
- 2
- Primary Topic
- Ocular Diseases and Behçet’s Syndrome
- Type
- article
- Field-Weighted Citation Impact
- 1.08