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Article

A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy.

European journal of ophthalmology - 1 Jul 2022

Jaakkola Aino Maaria, Järventausta Petri J, Järvinen Reetta-Stiina, Repo Pauliina, Kivelä Tero T, Turunen Joni A

Abstract excerpt

INTRODUCTION: We describe the phenotype of a variant lattice corneal dystrophy (LCD) potentially caused by a novel variant c.1772C>T p.(Ser591Phe) in exon 13 of the transforming growth factor beta-induced (TGFBI) gene. CASE REPORT: The proband, a 71-year-old woman referred because of bilateral LCD, first seen at the age of 65 years, with recent progressive symptoms, underwent a clinical ophthalmological...

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Share to Corneal Dystrophies, Hereditary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33645289
DOI: 10.1177/1120672121997305
PMCID: PMC9294436

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