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H. Chen, M. Zhang, L. Chen, P. Tam, H. Chen, C. Pang; A Chinese Family With Primary Open Angle Glaucoma and High Myopia Not Due to Myoc Mutations. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2169.
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© ARVO (1962-2015); The Authors (2016-present)
To investigate the genetic cause of primary open glaucoma (POAG) and high myopia in a Chinese family.
The proband and 16 members of a 3-generation Chinese Han family with POAG and high myopia were recruited for complete ophthalmological investigation and genetic study. Mutation screening was performed for the exons 1-3 of the MYOC gene using PCR followed by direct DNA sequencing. The splice sites were also investigated.
Three out of four sibling in the second generation had high myopia, one of them had juvenile onset POAG. Three members of the third generation had juvenile onset POAG and strabismus, one of them had high myopia. No disease-causing mutation in MYOC was identified. All members of this family, especially the young generation, are closely followed up for their ophthalmic conditions.
The MYOC gene seems not responsible for the POAG and high myopia in this family, in which the high myopia is unlikely to be associated with POAG. A genome-wide linkage analysis is underway to explore the genetic cause of POAG in this family.
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