Sequencing of the STRA6 (Stimulated-by-retinoic acid-6; Accession number NM_022369) gene that is mutated in individuals with a phenotype comprising anophthalmia, diaphragmatic defects, cardiac malformations and pulmonary agenesis, was performed on the propositus, and was negative [17]. The gene discussed is STRA6; the disease is Anophthalmia.