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Novel disease-causing variants and phenotypic features of X-linked megalocornea.

Acta ophthalmologica - 1 Jun 2022

Dudakova Lubica, Tuft Stephen, Cheong Sek-Shir, Skalicka Pavlina, Jedlickova Jana, Fichtl Marek, Hlozanek Martin, Filous Ales, Vaneckova Manuela, Vincent Andrea L, Hardcastle Alison J, Davidson Alice E, Liskova Petra

Abstract excerpt

PURPOSE: The aim of the study was to describe the phenotype and molecular genetic causes of X-linked megalocornea (MGC1). We recruited four British, one New Zealand, one Vietnamese and four Czech families. METHODS: All probands and three female carriers underwent ocular examination and Sanger sequencing of the CHRDL1 gene. Two of the probands also had magnetic resonance imaging (MRI) of the brain. RESULTS: We...

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PMID: 34644435
DOI: 10.1111/aos.15022

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