Phenotypic Manifestations in Female Carriers of <i>RPGR</i> ORF15 Variants Causing X-Linked Cone Dystrophy
This study identified a distinct phenotype in female carriers of RPGR variants causing X-linked cone dystrophy. In this cohort, the phenotype was consistent with mild cone dysfunction and anatomical macular changes. Depending on X-inactivation skew and rate of disease progression, some female carriers may be suitable for emerging gene therapies currently in clinical trials for affected male individuals.
Authors
- Robert E. MacLaren (ORCID: https://orcid.org/0000-0002-3096-4682)
- Peter Charbel Issa (ORCID: https://orcid.org/0000-0002-0351-6673)
- Shabnam Raji (ORCID: https://orcid.org/0009-0003-6779-5194)
- Jasmina Cehajic-Kapetanovic
Institutions
- National Health Service (GB)
- University of Oxford (GB)
- Technical University of Munich (DE)
Publication Details
- Journal
- JAMA Ophthalmology
- Published
- 2026-01-02
- DOI
- https://doi.org/10.1001/jamaophthalmol.2025.5492
- Primary Topic
- Ocular Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00