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Article

Corneal Plana-Like Phenotype With Peripheral Scleralization Associated With a Pathogenic Variant of PITX2 : A Case Report.

Cornea - 1 May 2023

Franco Elena, Scanga Hannah L, Nischal Ken K

Abstract excerpt

PURPOSE: The aim of this study was to report a case of corneal plana-like phenotype with bilateral peripheral scleralization associated with a PITX2 pathogenic variant. METHODS: Clinical findings were obtained by ophthalmologic examination. Molecular diagnosis was performed by whole-exome sequencing in the patient and his parents. RESULTS: A 12-month-old male patient present with bilateral peripheral corneal...

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PMID: 36727872
DOI: 10.1097/ICO.0000000000003208
PMCID: PMC10081730

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