Abstract

Background: High myopia is a common genetic variation in most cases, affecting 1–2% of people, and is the fourth most common disorder causing blindness worldwide. Six autosomal dominant loci and one X-linked recessive locus have been reported, but no genes responsible for high myopia have been identified.

Objective: To report a Chinese family in which six males presented with high myopia consistent with an X linked recessive trait.

Results: Affected individuals shared three common features: high myopia, reduced visual acuity, and fundal changes of high myopia. Protan and deutan were observed in the family, but they did not co-segregate with the high myopia phenotype. X-chromosome-wide linkage analysis mapped the high myopia locus to a 25 cM (14.9 Mb) region on Xq23–q25 between DXS1210 and DXS8057, with maximum two point lod scores at θ = 0 of 2.75 and 2.29 for DXS1001 and DXS8059, respectively.

Conclusions: This new myopia locus is outside the linked region of the first high myopia locus (MYP1). Refinement of the linkage region with additional families and screening candidate genes for mutation may lead to the identification of the defect gene.