Journal of Clinical and Experimental Ophthalmology
Open Access
ISSN: 2155-9570
ISSN: 2155-9570
Iman Marzouk
Switzerland
Research Article
Compound Heterozygous VSX2 Mutation Causing Bilateral Anophthalmia in a Consanguineous Egyptian Family
Author(s): Cecilia Jakobsson, Mohamed A Youssef, Iman Marzouk, Nihal ElShakankiri, Nader Bayoumi, Francis L. Munier, Daniel F Schorderet and Hana AbouzeidCecilia Jakobsson, Mohamed A Youssef, Iman Marzouk, Nihal ElShakankiri, Nader Bayoumi, Francis L. Munier, Daniel F Schorderet and Hana Abouzeid
Purpose: To report the clinical and genetic study of a child with bilateral anophthalmia. Methods: A 14-year-old Egyptian boy, born from consanguineous parents, underwent a general and a full ophthalmological examination. Mutation screen of the A/M genes with recessive inheritance was done stepwise and DNA was analyzed by Sanger sequencing. Results: Bilateral anophthalmia, arachnodactyly of the feet and high arched palate were observed on general examination. The parents were first cousins and healthy. Sequencing analysis revealed a novel compound heterozygous mutation in one of the copy of exon 2 of VSX2 and a possible deletion of at least exon 2 on the other allele. Conclusions: A compound heterozygous VSX2 mutation associated with anophthalmia was identified in a patient from an Egyptian consan.. View More»
DOI:
10.4172/2155-9570.1000441