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Article

Corneal thinning and cornea guttata in patients with mutations in TGFB2.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie - 1 Aug 2020

Eghrari Allen O, Rasooly Marjohn M, Fliotsos Michael J, Kinard Jessica, Odozor Obinna, Cunningham Denise, Bishop Rachel J, Guerrerio Anthony L, Frischmeyer-Guerrerio Pamela A

Abstract excerpt

OBJECTIVE: Human genome-wide association studies and animal models suggest a role for TGFB2 in contributing to the corneal thickness phenotype. No specific mutations, however, have been reported in this gene that affect corneal thickness. We sought to determine if haploinsufficiency of TGFB2 in humans associated with Loeys-Dietz syndrome type 4 is associated with corneal thinning. DESIGN: Observational cohort...

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Identifiers

PMID: 32307099
DOI: 10.1016/j.jcjo.2020.03.007
PMCID: PMC8049842

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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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