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Article

Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant.

Ophthalmic genetics - 1 Oct 2022

Irusteta Leire, Ramírez-Miranda Arturo, Navas-Pérez Alejandro, Montes-Almanza Luis, Arteaga José, García-Martínez Froylán, Graue-Hernández Enrique, Zenteno Juan C

Abstract excerpt

PURPOSE: The purpose of this study is to describe the corneal clinical spectrum and the intrafamilial phenotypic differences in an extended pedigree suffering from stromal corneal dystrophy due to the rare p.Ala546Asp mutation in TGFBI. METHODS: A total of 15 members from a four-generation Mexican family were ascertained for clinical and genetic assessment. All individuals underwent slit-lamp biomicroscopic...

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Identifiers

PMID: 35470743
DOI: 10.1080/13816810.2022.2068047

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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