Corneal thinning and cornea guttata in patients with mutations in TGFB2
Eghrari AO, Rasooly MM, Fliotsos MJ, Kinard J, Odozor O, Cunningham D, Bishop RJ, Guerrerio AL, Frischmeyer-Guerrerio PA. Corneal thinning and cornea guttata in patients with mutations in TGFB2. Canadian Journal Of Ophthalmology 2020, 55: 336-341. PMID: 32307099, PMCID: PMC8049842, DOI: 10.1016/j.jcjo.2020.03.007.Peer-Reviewed Original ResearchMeSH KeywordsCorneaGenome-Wide Association StudyHumansIridocorneal Endothelial SyndromeMutationTransforming Growth Factor beta2ConceptsLoeys-Dietz syndrome type 4Corneal thinningCorneal thicknessCornea guttataType 4Observational cohort studyTertiary care settingComprehensive ophthalmic examinationSlit-lamp biomicroscopyCentral corneal thicknessCohort studyVisual acuityOphthalmic examinationPhenotype-genotype correlationClinical evaluationRefractive errorClinical assessmentCare settingsSpecular microscopyAnimal modelsYounger ageAxial lengthPathogenic mutationsTGFB2Human genome-wide association studies