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.

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.

Purpose: To report on the changes in the natural crystalline lens in primary congenital glaucoma (PCG) eyes that had undergone previous combined angle-filtering surgery with antimetabolites. Settings: The pediatric ophthalmology unit of the ophthalmology department of Alexandria Main University Hospital. Design: A retrospective chart review. Methods: A retrospective chart review of patients presenting with and operated (by combined angle-filtering surgery with antimetabolites) for PCG in the period from 2005 to 2018. Any lens pathology was noted as well as the management and the outcome. Results: The records of 422 children (613 eyes) were reviewed. Lens pathology was noted in 54 (8.8%) eyes. Abnormalities in lens clarity (cataract) were detected in 31 (56%) eyes, and abnormalities in lens position (subluxation) were detected in 24 (44%) eyes. Management options included observation (in 28 eyes), lensectomy for aphakia (in 14 eyes), lensectomy with in the bag intraocular lens (IOL) implantation (in 11 eyes), and lensectomy with iris-fixated IOL (in 1 eye). Elevation of intraocular pressure (IOP) occurred in only 4 eyes (of 26 operated eyes, 15.3%) after lens extraction. Conclusions: Changes in the natural crystalline lens clarity and/or position occurred in 8.8% (54 of 613) of PCG eyes operated by combined anglefiltering surgery with antimetabolites. Lens extraction was a relatively safe procedure with only 15% (4 of 26) of eyes suffering an elevation of IOP after lens extraction.