Multimodal imaging in retinitis pigmentosa related to the EYS gene
The findings demonstrate that eyes shut homolog-retinitis pigmentosa manifests in specific patterns, starting in adolescence with mild progression and advancing with age. The integration of multimodal imaging and genetic analysis has provided a detailed understanding of the anatomical and functional features of retinitis pigmentosa-eyes shut homolog. Seven novel variants of the eyes shut homolog gene have been identified. These findings enhance the understanding of eyes shut homolog-related retinitis pigmentosa characteristics of by detailing the spectrum of mutations in this gene within the Brazilian population.
Authors
- Rebeca Azevedo Souza Amaral (ORCID: https://orcid.org/0000-0001-6557-0723)
- Caio Henrique Marques Texeira (ORCID: https://orcid.org/0000-0002-3992-6965)
- Juliana Maria Ferraz Sallum (ORCID: https://orcid.org/0000-0002-7206-4447)
- E Martins (ORCID: https://orcid.org/0000-0001-5455-0401)
- Gabriela Doná Rodrigues (ORCID: https://orcid.org/0009-0008-8460-1511)
- Kendy Junior Ivama (ORCID: https://orcid.org/0000-0001-5588-4462)
- Mariana Costa Pereira (ORCID: https://orcid.org/0000-0002-1450-0327)
Institutions
- Hospital São Paulo (BR)
- Universidade Federal de São Paulo (BR)
Publication Details
- Journal
- Arquivos Brasileiros de Oftalmologia
- Published
- 2024-11-26
- DOI
- https://doi.org/10.5935/0004-2749.2024-0104
- Citations
- 1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.23