Ghada Gawdat

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

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.

Severe fibrosis of extraocular muscles after the use of lyophilized amniotic membrane in strabismus surgery.

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.

Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: A single center experience

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 confirming the diagnosis of type-1 NPHP. Moreover, our findings confirm that NPHP1 deletions can indeed be responsible for JSRD.

Evaluation of Artisan aphakic intraocular lens in cases of pediatric aphakia with insufficient capsular support

PURPOSE To evaluate the visual outcomes and complications after Artisan iris-claw lens implantation in aphakic children with insufficient capsular support. METHODS In this prospective, interventional noncontrolled study, aphakic eyes of consecutive patients >2 years of age with insufficient capsular support who underwent Artisan intraocular lens (IOL) implantation between June 2011 and December 2012 were followed for 1 year. Patients with anterior chamber depth <3 mm, central endothelial cell density (CECD) <2500 cells/mm(²), uncontrolled glaucoma, or uveitis were excluded. Best-corrected visual acuity, intraocular pressure (IOP), and CECD were measured at 1, 6, and 12 months postoperatively. RESULTS A total of 25 aphakic eyes of 18 patients (mean age, 7.86 ± 3.08 years) with insufficient capsular support for a standard posterior chamber IOL were included, 18 eyes with subluxated lens and 7 following trauma. The mean preoperative logMAR best-corrected visual acuity for traumatic aphakic patients was 0.95 ± 0.36; for patients with subluxation, 0.7 ± 0.26. Values improved at 1 year to 0.38 ± 0.15 (P < 0.002) and 0.3 ± 0.2 (P < 0.0001), respectively. One year after surgery the CECD (2892.64 ± 441.79 cells/mm(²)) was significantly reduced from the preoperative and 1 month postoperative values (3573.36 ± 468.9 cells/mm(2), 3081 ± 495 cells/mm(²); P < 0.0001, P < 0.02 resp.). Two cases (8%) developed traumatic dislocation. Pupillary block occurred in 1 case (4%). CONCLUSIONS Artisan IOL implantation for pediatric aphakia achieved a good visual outcome.

Comparison of superior oblique suture spacers and superior oblique silicone band expanders

PURPOSE To compare suture spacers with silicone band expanders in superior oblique-weakening surgery. METHODS We retrospectively reviewed the charts of consecutive patients who had superior oblique weakening with either suture spacers or silicone expanders and had been followed for a minimum follow-up of 6 months. The ductions, versions, and the degree of fundus torsion were analyzed in all patients before and after surgery. In addition, surgery time and postoperative complications were analyzed. RESULTS The record review identified 25 patients, of whom 13 had been treated with superior oblique muscle suture spacers and 12 with superior oblique muscle silicone expanders. Both groups showed improved ductions and versions. In patients with Brown syndrome, complete normalization of superior oblique muscle overaction occurred in 67% of patients who had suture spacers and 67% of patients who had silicone expanders. In patients with A-pattern strabismus, normal function of the superior oblique muscle occurred in 75% of patients with suture spacers and 67% of patients with silicone expanders. Surgery time was significantly less in patients who had suture spacers. Severe orbital inflammation occurred in 1 patient around the silicone band and was managed by removal of the implant. CONCLUSIONS Both suture spacers and silicone expanders improved the comitance of versions and normalized superior oblique muscle function. Longer surgery time and more severe inflammatory reaction are possible drawbacks of silicone expanders.

Two-year results of microcatheter-assisted trabeculotomy in paediatric glaucoma: a randomized controlled study

To compare the outcomes of microcatheter‐assisted circumferential trabeculotomy to standard rigid probe trabeculotomy in childhood glaucomas.

Ocular Manifestations in Children with Juvenile-Onset Systemic Lupus Erythematosus

ABSTRACT Purpose: To study the ocular manifestations of juvenile systemic lupus erythematosus (JSLE), including the ocular side-effects of the systemic medications used. Methods: A descriptive cross-sectional study on 40 children diagnosed with JSLE was conducted. Ophthalmological and laboratory investigations as well as a calculation of the Systemic Lupus Disease Activity Index 2000 (SLEDAI-2K) were performed. Results: Forty consecutive children, 32 females and 8 males, with JSLE were examined. Their mean age was 13±2.8 years and the mean SLEDAI-2K was 4.3±3.1. An abnormal Schirmer test was found in 16 patients (40%), retinal vascular changes were found in seven patients (17.5%), and one patient (2.5%) had faint posterior subcapsular cataract. Conclusion: Serious sight-threatening complications were not detected in our study; dry eye was the most common ocular finding, and the detected retinopathy was related to systemic hypertension and could not be correlated to either disease activity or duration.

Incidence and Risk Factors of Early-onset Glaucoma following Pediatric Cataract Surgery in Egyptian Children: One-year Study

Aim To study the incidence and risk factors of glaucoma occurring within 1 year following pediatric cataract surgery in Egyptian children. Materials and methods This is a prospective nonrandomized study conducted at Aburich Children’s Hospital, over a period of 1 year on a cohort of Egyptian patients with congenital and infantile cataract. One hundred and fifty eyes of 88 patients were enrolled in this study. All the patients underwent anterior approach removal of lens matter, whereas primary intraocular lens (IOL) implantation was carried at the age of 1 and 2 years for unilateral and bilateral cases respectively. Intraocular pressure (IOP) was measured at 1 week, 1 month, 3 months, 6 months, 9 months, and 1 year. For those who developed glaucoma, time of diagnosis and associated risk factors were reported. Results The incidence of glaucoma was 11.33% (17 of 150 eyes), while incidence of glaucoma suspect was 0.67% (1 of 150 eyes) in the first year following cataract surgery. The majority of the cases (66.7%) were discovered in the first 3 months postcataract surgery. Age at time of cataract surgery, the state of aphakia/pseudophakia, persistent fetal vasculature (PFV), and microphthalmia were not found to be significant predictors of early-onset glaucoma in our study. Conclusion Aphakic glaucoma continues to be a devastating condition with high incidence during first year following cataract surgery. Clinical significance Regular follow-up should start as early as possible following cataract surgery. Further prospective studies with larger study population are required. How to cite this article: Gawdat GI, Youssef MM, Bahgat NM, Elfayoumi DM, Eddin MAS. Incidence and Risk Factors of Early-onset Glaucoma following Pediatric Cataract Surgery in Egyptian Children: One-year Study. J Curr Glaucoma Pract 2017;11(3):80-85.