VSX2 mutations in autosomal recessive microphthalmia.

Purpose: To further explore the spectrum of mutations in the Visual System Homeobox 2 (VSX2/CHX10) gene previously found to be associated with autosomal recessive microphthalmia.

Methods: We screened 95 probands with syndromic or isolated developmental ocular conditions (including 55 with anophthalmia/microphthalmia) for mutations in VSX2.

Results: Homozygous mutations in VSX2 were identified in two out of five consanguineous families with isolated microphthalmia.