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MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland
A Mataftsi1, F Achache, E Héon
1Unité d'Oculogénétique, Hôpital Ophtalmique Jules Gonin, Lausanne, Switzerland.
Purpose:
To determine MYOC gene mutation frequency in patients with primary open-angle glaucoma (POAG) from Western Switzerland.
Methods:
A total of 117 unselected index patients with primary open-angle glaucoma were submitted to a full eye examination. DNA was extracted from blood and PCR amplicons of MYOC exon 3 were screened for mutations by single-strand conformation polymorphism (SSCP) analysis. Abnormal conformers were analyzed both by direct bidirectional sequencing and by enzymatic mutation detection (EMD) assay.
Results:
Ten occurrences of four different sequence changes were detected, including: 1) five times the same disease-causing mutation (Q368X) in five unrelated POAG patients and 2) three distinct polymorphisms in five patients. The patients carrying an MYOC mutant allele were characterized by a broad clinical variability in terms of age of onset (34-77 years) and highest intraocular pressure (IOP) values (23-47 mmHg).
Conclusions:
A pathogenic MYOC mutation (Q368X) was identified in 4.27% (5/117) of the studied population from Western Switzerland, which corresponds to the highest frequency yet reported for this mutation.