Kohn et al. (1988) described a large consanguineous Arab kindred in Israel in which 19 persons over 3 generations had bilateral profound microphthalmia without associated anomalies and with normal intelligence. One female infant had tracheoesophageal fistula repaired in ... Kohn et al. (1988) described a large consanguineous Arab kindred in Israel in which 19 persons over 3 generations had bilateral profound microphthalmia without associated anomalies and with normal intelligence. One female infant had tracheoesophageal fistula repaired in the neonatal period; when examined at 1 month of age, she had mild right hydronephrosis by intravenous pyelography and ultrasound. Kohn et al. (1988) stated that these abnormalities were 'undoubtedly unrelated to the microphthalmia' (see microphthalmia and esophageal atresia, MCOPS3, 206900).
Bar-Yosef et al. (2004) studied 4 families (2 of Arab origin, 1 of Bedouin origin, and 1 of Persian Jewish origin) with autosomal recessive isolated microphthalmia/clinical anophthalmia and no associated eye anomalies. In the 2 Arab families, 1 ... Bar-Yosef et al. (2004) studied 4 families (2 of Arab origin, 1 of Bedouin origin, and 1 of Persian Jewish origin) with autosomal recessive isolated microphthalmia/clinical anophthalmia and no associated eye anomalies. In the 2 Arab families, 1 of which had previously been reported by Kohn et al. (1988), they identified homozygosity for a missense mutation (142993.0003) and a deletion (142993.0004) in the CHX10 gene, respectively. No mutations were identified in the other 2 families. In 6 affected individuals from 2 consanguineous families from Qatar with isolated microphthalmia and cloudy corneas, Faiyaz-Ul-Haque et al. (2007) identified homozygosity for an R200P mutation (142993.0002) in the CHX10 gene. Craniofacial features, height, weight, and intelligence were normal in these patients. Unaffected parents were heterozygous for the mutation.