Use of congenital hypertrophy of the retinal pigment epithelium as a clinical sign of familial adenomatous polyposis
The study findings confirmed the significance of congenital hypertrophy of the retinal pigment epithelium as a phenotypic marker for familial adenomatous polyposis. Furthermore, it is an effective first-line screening method for at risk family members of such patients. The novel mutation identified in our study participants, which is yet to be described in the literature, causes an aggressive form of the disease.
Authors
- Cláudia de Alvarenga Diniz Fonseca (ORCID: https://orcid.org/0000-0001-9523-6830)
- Daniella Reis Barbosa Martelli (ORCID: https://orcid.org/0000-0002-3979-7497)
- Célia Márcia Fernandes Maia (ORCID: https://orcid.org/0000-0001-6094-815X)
- Adriana Amaral Carvalho (ORCID: https://orcid.org/0000-0003-4733-6209)
- Hercílio Martelli Júnior (ORCID: https://orcid.org/0000-0001-9691-2802)
- Thaísa Soares Crespo (ORCID: https://orcid.org/0000-0002-8101-5233)
- Luciano Sólia Násser (ORCID: https://orcid.org/0000-0002-0864-6047)
- Christine Mendes Silveira (ORCID: https://orcid.org/0009-0009-5772-066X)
- Juliana Bastos Amaral (ORCID: https://orcid.org/0009-0004-4798-6978)
Institutions
- Universidade Estadual de Montes Claros (BR)
Publication Details
- Journal
- Arquivos Brasileiros de Oftalmologia
- Published
- 2024-11-26
- DOI
- https://doi.org/10.5935/0004-2749.2023-0115
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00