Variable phenotypic expression of MYOC mutations in a family with inherited pediatric glaucoma

Can J Ophthalmol. 2023 Dec;58(6):e269-e270. doi: 10.1016/j.jcjo.2023.05.004. Epub 2023 May 27.

Authors

Guillaume A Mullie¹, Simon Javidi¹, Jean-François Soucy², Mark R Lesk³, Patrick Hamel⁴

Affiliations

¹ University of Montreal, Montreal, QC.
² University of Montreal, Montreal, QC; Sainte-Justine University Hospital Center, Montreal, QC.
³ University of Montreal, Montreal, QC; University Ophthalmology Center of the University of Montreal Maisonneuve-Rosemont Hospital, Montreal, QC.
⁴ University of Montreal, Montreal, QC; Sainte-Justine University Hospital Center, Montreal, QC. Electronic address: [email protected].

PMID: 37247815
DOI: 10.1016/j.jcjo.2023.05.004

No abstract available

Publication types

Letter

MeSH terms

Child
DNA Mutational Analysis
Eye Proteins / genetics
Eye Proteins / metabolism
Glaucoma* / genetics
Humans
Mutation
Pedigree

Substances

Eye Proteins
trabecular meshwork-induced glucocorticoid response protein

Supplementary concepts

Early-Onset Glaucoma