Phenotypic characterization of a female patient with retinitis pigmentosa caused by a homozygous X-linked RPGR mutation
This detailed phenotype-genotype correlation presents a novel clinical presentation of a rare homozygous <i>RPGR</i> <sup><i>ORF15</i></sup> mutation in a female patient that exhibits severe retinal degeneration similar to affected males and therefore, considering they don't have a wildtype allele, may be suitable for inclusion in upcoming therapeutic treatment trials.
Authors
- Frank Gerhard Holz (ORCID: https://orcid.org/0000-0001-8019-9272)
- Elisa A. Mahler
- Marlene Saßmannshausen (ORCID: https://orcid.org/0000-0001-5265-4645)
- David Rosenkranz (ORCID: https://orcid.org/0000-0001-5781-6201)
- Hanno J. Bolz (ORCID: https://orcid.org/0000-0001-9317-0022)
- Sandrine H. Künzel (ORCID: https://orcid.org/0000-0002-1686-4642)
- Constanze L. Kochs
- Philipp Herrmann
Institutions
- Johannes Gutenberg University Mainz (DE)
- University Hospital Bonn (DE)
- University Medical Center of the Johannes Gutenberg University Mainz (DE)
Publication Details
- Journal
- American Journal of Ophthalmology Case Reports
- Published
- 2025-02-23
- DOI
- https://doi.org/10.1016/j.ajoc.2025.102290
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00