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Article

Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome.

Cornea - 1 Dec 2023

Sklar Bonnie A, Pisuchpen Phattrawan, Bareket Mor, Milman Tatyana, Eagle Ralph C, Minor Jade, Procopio Rebecca, Capasso Jenina, Levin Alex V, Hammersmith Kristin

Abstract excerpt

PURPOSE: The aim of this study was to report a novel PRDM5 pathologic variant and ophthalmic findings in a family with 3 children diagnosed with brittle cornea syndrome (BCS). Histopathologic findings and surgical outcome of a child with BCS who underwent full-thickness corneal transplant are described. METHODS: This is an observational case report of a nonconsanguineous Laotian family with 3 siblings diagnosed...

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PMID: 37713669
DOI: 10.1097/ICO.0000000000003372

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