Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, not linked to the 10p11.23 locus, whose two affected children have a homozygous mutation in SMOC1. Knockdown experiments of the zebrafish smoc1 revealed that smoc1 is important in eye development and that it is expressed in many organs, including brain and somites.

Purpose To study the additive value of deep sclerectomy to the procedure of combined trabeculotomy-trabeculectomy with mitomycin C (CTTM) for the treatment of primary congenital glaucoma. Study design This study is a prospective, randomized case series. Patients and methods The study was conducted on 20 eyes of 20 children with primary congenital glaucoma presenting to the Department of Ophthalmology of the Alexandria Main University Hospital. Preoperative examination under anesthesia was followed by surgical intervention. Postoperative examinations were conducted immediately after surgery and at 1, 2, 3, 6, 9, and 12 months. Intraoperative and postoperative complications, as well as operative time, were recorded. Results The mean (±SD, range) age of the study patients in the CTTM group and in the combined trabeculotomy-trabeculectomy with mitomycin C with deep sclerectomy (CTTM-DS) group was 4.7 ( ± 2.0, 2-8) and 7.0 ( ± 3.8, 3-13) months, respectively. The mean ( ± SD, range) preoperative intraocular pressure (IOP) in the CTTM and CTTM-DS groups was 16.7 (4.3, 10-26) and 16.4 (8.4, 8-36), respectively, and these dropped at 12 months of follow-up to 4.9 (2.0, 2-8) and 5.6 (3.3, 2-10), respectively. The mean ( ± SD, range) of the duration of the operation in the CTTM and the CTTM-DS was 57 ( ± 8, 50-71) min and 53 ( ± 7, 42-64) min, respectively (P ¼ 0.428). Two eyes (20%) in the CTTM-DS group developed hypotony disc edema at the first 2 months and resolved spontaneously thereafter. No other complications were noted in either of the groups. Conclusion The addition of deep sclerectomy to the procedure of CTTM in pediatric glaucoma surgery facilitates the finding of Schlemm's canal, shortens the duration of surgery, and is not associated with any additional complications. Hence, the author recommends the addition of deep sclerectomy to CTTM surgery for primary congenital glaucoma.

Anophthalmia or microphthalmia (A/M), characterized by absent or small eye, can be unilateral or bilateral and represent developmental anomalies due to the mutations in several genes. Recently, mutations in aldehyde dehydrogenase family 1, member A3 (ALDH1A3) also known as retinaldehyde dehydrogenase 3, have been reported to cause A/M. Here, we screened a cohort of 75 patients with A/M and showed that mutations in ALDH1A3 occurred in six families. Based on this series, we estimate that mutations in ALDH1A3 represent a major cause of A/M in consanguineous families, and may be responsible for approximately 10% of the cases. Screening of this gene should be performed in a first line of investigation, together with SOX2.

The ORA is valuable for the evaluation of IOP and corneal biomechanics. However its results are not to be used interchangeably with the GAT findings.