Aldahmesh et al. (2012) reported a Saudi Arabian brother and sister, born of third-cousin parents, who had nonsyndromic bilateral colobomatous microphthalmia. The 11-year-old brother had no medical history other than congenitally small eyes and accompanying poor vision, with ... Aldahmesh et al. (2012) reported a Saudi Arabian brother and sister, born of third-cousin parents, who had nonsyndromic bilateral colobomatous microphthalmia. The 11-year-old brother had no medical history other than congenitally small eyes and accompanying poor vision, with 20/50 visual acuity on the right and hand motion on the left; similarly, his 9-year-old sister had visual acuities of 20/200 and 20/300 on the right and left, respectively. Anterior segment examination of both sibs revealed microcornea, microphthalmos, and iris coloboma, and funduscopic examination showed grossly anomalous discs and total coloboma involving the macula. Both sibs had normal cognitive and motor development. Their parents had normal eyes upon examination, and there were 2 other unaffected sisters.
In a Saudi Arabian brother and sister with nonsyndromic bilateral colobomatous microphthalmia, who were negative for mutation in known microphthalmia genes, Aldahmesh et al. (2012) performed combined autozygome and exome analysis, which revealed homozygosity for a frameshift mutation ... In a Saudi Arabian brother and sister with nonsyndromic bilateral colobomatous microphthalmia, who were negative for mutation in known microphthalmia genes, Aldahmesh et al. (2012) performed combined autozygome and exome analysis, which revealed homozygosity for a frameshift mutation in the ODZ3 gene (610083.0001). Their unaffected parents were heterozygous for the mutation, which was not found in ethnically matched controls or in the Exome Variant Server.