The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease. We used homozygosity mapping combined with next-generation sequencing to interrogate patients with anophthalmia and microphthalmia for new causative genes. We used whole-exome and whole-genome sequencing to study a family with two affected brothers with bilateral A/M and a simplex case with bilateral anophthalmia and hypoplasia of the optic nerve and optic chiasm. Analysis of novel sequence variants revealed homozygosity for two nonsense mutations in ALDH1A3, c.568A>G, predicting p.Lys190*, in the familial cases, and c.1165A>T, predicting p.Lys389*, in the simplex case. Both mutations predict nonsense-mediated decay and complete loss of function. We performed antisense morpholino (MO) studies in Danio rerio to characterize the developmental effects of loss of Aldh1a3 function. MO-injected larvae showed a significant reduction in eye size, and aberrant axonal projections to the tectum were noted. We conclude that ALDH1A3 loss of function causes anophthalmia and aberrant eye development in humans and in animal model systems.

At 2 years postoperatively, microcatheter-assisted trabeculotomy still yielded superior results in terms of IOP control and success rates in children with primary congenital glaucoma. The need for reoperation for glaucoma was significantly lower in the microcatheter group.

PurposeTo study the prognostic factors influencing intraocular pressure (IOP) reduction and success rates of paediatric goniotomy and trabeculotomy.PatientsData from patients aged ≤12 years who underwent goniotomy or trabeculotomy for primary congenital glaucoma from 2013 to 2016 were reviewed. The analysis included 452 eyes of which 120 eyes of patients with a median age (IQR) of 6 months (4.1–11 months) underwent goniotomy, and 332 eyes of patients with a median age of 5.2 months (2.3–9.3 months) underwent trabeculotomy.MethodsMultivariate linear regression analysis was used to predict the correlation of preoperative and operative risk factors to the per cent IOP reduction, while multivariate logistic regression was done to determine independent predictors of failure. Failure was defined as a final IOP >18 mm Hg while on medications or the need for another glaucoma procedure.ResultsIn the goniotomy group, the median IOP reduction was 19.4% and was positively correlated to a high initial IOP (p≤0.001) while in the trabeculotomy group, it was 36.8% and mostly influenced by preoperative IOP (p≤0.001), corneal clarity (p=0.04), gender (p=0.04) and consanguinity (p=0.03). The failure rate in the goniotomy group was 56% and was influenced by the preoperative cup-to-disc ratio, while in the trabeculotomy group it was 30% and strongly correlated to positive consanguinity (p≤0.001), higher preoperative IOP (p=0.003), female gender (p=0.01) and younger age at surgery (p=0.03).ConclusionSeveral factors can predict the outcome of angle surgery and can help in deciding the appropriate surgical intervention in paediatric glaucoma. Trabeculotomy seems to be superior to goniotomy in primary congenital glaucoma.

Nephronophthisis (NPHP) is a recessive disorder of the kidney that is the leading genetic cause of end-stage renal failure in children. Egypt is a country with a high rate of consanguineous marriages; yet, only a few studies have investigated the clinical and molecular characteristics of NPHP and related ciliopathies in the Egyptian population. We studied 20 children, from 17 independent families, fulfilling the clinical and the ultrasonographic criteria of NPHP. Analysis for a homozygous deletion of the NPHP1 gene was performed by polymerase chain reaction on the genomic DNA of all patients. Patients were best categorized as 75% juvenile NPHP, 5% infantile NPHP, and 20% Joubert syndrome-related disorders (JSRD). The mean age at diagnosis was 87.5 + 45.4 months, which was significantly late as compared with the age at onset of symptoms, 43.8 ± 29.7 months (P <0.01). Homozygous NPHP1 deletions were detected in six patients from five of 17 (29.4%) studied families. Our study demonstrates the clinical phenotype of NPHP and related disorders in Egyptian children. Also, we report that homozygous NPHP1 deletions account for 29.4% of NPHP in the studied families in this cohort, thereby confir-ming the diagnosis of type-1 NPHP. Moreover, our findings confirm that NPHP1 deletions can indeed be responsible for JSRD.

Circumferential trabeculotomy using either the illuminated microcatheter or rigid probe trabeculotome yielded comparable results; however, the added cost of the microcatheter should be considered.

Various techniques have been used to reduce adhesions after strabismus surgery. Wrapping the extraocular muscles with cryopreserved amniotic membrane has been reported to yield good results. In the case reported here, we used lyophilized amniotic membrane to wrap the extraocular muscles. Extensive adhesions developed, and inelastic, fibrotic muscles were discovered at a subsequent operation.

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