A Rare RHO Variant and Its Phenotypic Spectrum in a Portuguese Family with Retinitis Pigmentosa: A Case Series
This is the first report linking the RHO p.(Gly182Asp) variant with both typical and sector RP, highlighting intrafamilial heterogeneity. Detailed phenotyping is crucial for genetic counseling and potential inclusion in future gene-based therapies.
Authors
- Paulo Rocha (ORCID: https://orcid.org/0000-0001-6879-698X)
- Amândio Rocha‐Sousa (ORCID: https://orcid.org/0000-0001-8374-0298)
- Carla Sofia Ferreira
- Rita Teixeira-Martins (ORCID: https://orcid.org/0000-0001-7919-3148)
- Sérgio Estrela-Silva
- Pedro Louro
- Margarida Ribeiro
Institutions
- University of Beira Interior (PT)
- Universidade do Porto (PT)
- Hospital de São João (PT)
- Administração Regional de Saúde de Lisboa e Vale do Tejo (PT)
Publication Details
- Journal
- Case Reports in Ophthalmology
- Published
- 2026-01-22
- DOI
- https://doi.org/10.1159/000549601
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00