Corneal Plana-Like Phenotype With Peripheral Scleralization Associated With a Pathogenic Variant of PITX2: A Case Report-Reference-Cited by-同舟云学术

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

Published:2023-01-19 Issue:5 Volume:42 Page:639-640
ISSN:0277-3740
Container-title:Cornea
language:en
Short-container-title:

Author:

Franco Elena¹²³,Scanga Hannah L.¹,Nischal Ken K.¹⁴⁵

Affiliation:

1. Division of Paediatric Ophthalmology, Strabismus, and Adult Motility, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA;

2. Department of Translational Medicine, University of Ferrara, Ferrara, Italy;

3. Istituto Internazionale per la Ricerca e Formazione in Oftalmologia (IRFO), Forlì, Italy;

4. Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA; and

5. University of Pittsburgh School of Medicine, Pittsburgh, PA.

Abstract

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 scleralization, corneal plana-like phenotype, and iris hypoplasia. The genetic analysis revealed a de novo PITX2 pathogenic variant (c.323G>A, p.R108H). Conclusions: PITX2 c.323G>A (p.R108H) can be associated with a unique corneal plana-like phenotype with peripheral scleralization, and thus, PITX2 should be targeted in genetic testing of this specific phenotype.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Ophthalmology

Reference10 articles.

1. PITX2 deficiency and associated human disease: insights from the zebrafish model;Hendee;Hum Mol Genet.,2018

2. A mutation in the RIEG1 gene associated with Peters' anomaly;Doward;J Med Genet.,1999

3. Ring dermoid syndrome. A new syndrome of autosomal dominantly inherited, bilateral, annular limbal dermoids with corneal and conjunctival extension;Mattos;Arch Ophthalmol.,1980

4. Mutation in PITX2 is associated with ring dermoid of the cornea;Xia;J Med Genet.,2004

5. Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12;Tahvanainen;Genome Res.,1996