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Article

Use of congenital hypertrophy of the retinal pigment epithelium as a clinical sign of familial adenomatous polyposis.

Arquivos brasileiros de oftalmologia - 1 Jan 2024

Carvalho Adriana Amaral, Crespo Thaísa Soares, Násser Luciano Sólia, Maia Célia Márcia Fernandes, Fonseca Cláudia de Alvarenga Diniz, Silveira Christine Mendes, Amaral Juliana Bastos, Martelli Daniella Reis Barbosa, Martelli Júnior Hercílio

Abstract excerpt

PURPOSE: To evaluate the presence of congenital hypertrophy of the retinal pigment epithelium in a large family affected by familial adenomatous polyposis and identify the causative mutation in the adenomatous polyposis coli gene. Thus, we aimed to determine the significance of congenital hypertrophy of the retinal pigment epithelium as a phenotypic marker of the disease. METHODS: A family consisting of 95...

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Identifiers

PMID: 39607153
DOI: 10.5935/0004-2749.2023-0115
PMCID: PMC12997593

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