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Article

A case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2.

Ophthalmic genetics - 1 Oct 2025

Min Ji Sang, Kim Tae-Im, Shin Kyoung-Jin, Choi Jinseok, Stulting R Doyle, Kim Eung Kweon

Abstract excerpt

PURPOSE: To report the first case of granular corneal dystrophy type 2 (GCD2) caused by a de novo p.(Arg124His) mutation that was confirmed by paternity testing in a 13-year-old male patient referred for the evaluation of corneal opacities in the left eye.Study design: Clinical case report. METHODS: The p.(Arg124His) mutation was identified using direct Sanger sequencing of the entire TGFBI gene. The patient's...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40556321
DOI: 10.1080/13816810.2025.2507085

Genes

TGFBI

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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