Genetics and phenotypes of <i>RPE65</i> mutations in inherited retinal degeneration: A study from a tertiary eye care center in Brazil.
<i>RPE65</i> variants were found in 10.3% of cases in this series, associated with LCA, EOSRD, and RP. These variants were consistently linked with pigmentary changes in the peripheral retina and exhibited variable manifestations regarding arteriolar attenuation, disc pallor, and macular appearance. In this series, the prevalence of the p.Leu341Ser (c.1022T>C) mutation was 57%.
Authors
- Maria Frasson (ORCID: https://orcid.org/0000-0002-1250-3575)
- Márcio Bittar Nehemy (ORCID: https://orcid.org/0000-0002-4104-0346)
- Virgínia Mares (ORCID: https://orcid.org/0000-0001-6127-6770)
- Sarah Pereira de Freitas Cenachi
- Rodrigo Rezende Arantes (ORCID: https://orcid.org/0000-0002-5041-1102)
- Anna Luiza Braga Albuquerque (ORCID: https://orcid.org/0009-0006-2097-3290)
- Luiz Armando Cunha de Marco
- Anna Laura Marques Nascentes
Institutions
- Universidade Federal de Minas Gerais (BR)
Publication Details
- Journal
- PubMed
- Published
- 2025-01-01
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00