A nonsense mutation in the GCNT2 gene isoforms is associated with autosomal recessive congenital cataract in four distantly related Arab families from Israel. These findings provide further insight into the dual role of the I-branching GCNT2 gene in the lens and in reticulocytes.
We present our experience of the sonographic prenatal diagnosis of dacryocystocele and review the literature. This lesion can be distinguished from a facial hemangioma, dermoid or anterior encephalocele by the ultrasound findings and Doppler flow studies. These conditions are separate entities and their associated diagnosis and prognosis are very different in each case. As dacryocystocele may be part of numerous syndromes, its prenatal visualization raises the rare possibility of associated anomalies.
PURPOSE. To evaluate the use of liquid crystal glasses (LCG) for the treatment of amblyopia caused by refractive errors, strabismus, or both. METHODS. In this noncomparative, prospective, interventional case series, 28 children (age range, 4-7.8 years) with monocular amblyopia participated, of which 24 completed the study. In the LCG, the occluding and nonoccluding phases of the flicker were electronically set in all patients at a fixed rate. The rate was set so that accumulated occlusion was 5 hours during 8 hours' weartime. Occlusion was applied only to the good eye. All 24 children were followed up regularly for 9 months. Best corrected VA for distance and near, fixation patterns, and binocular function were measured. VA for distance was measured with the Snellen chart and for near with the Rossano/Weiss chart. RESULTS. Mean VA for distance at the end of the study (after 9 months) was 0.59 (SD, 0.16) compared with 0.27 (SD, 0.09) at the beginning (P < 0.001). Most of the children (92%) complied well with the treatment. (Good compliance was defined as wearing the LCG for at least 8 hours per day.) Stereopsis at the end of treatment was good (better than 60 sec arc) in 21% of the children compared with 8% at the beginning. No serious adverse events were recorded. CONCLUSIONS. The use of LCG in patients with amblyopia yielded an improvement in near and distance VA and in stereopsis. Treatment was well accepted by children and parents.
To evaluate the visual outcome and postoperative complications of cataract surgery with posterior chamber intraocular lens implantation in children with uveitis. Design: A multicenter, retrospective, interventional case series. The setting included 3 medical centers in Israel. The interventions were cataract surgery and intraocular lens implantation. Aggressive preoperative and postoperative systemic and topical anti-inflammatory treatment was instituted. The main outcome measures included postoperative inflammation, complications, and visual outcome. Results: Children with juvenile rheumatoid arthritis (JRA)-associated uveitis were seen and underwent cataract surgery at an earlier age, and had a lower preoperative visual acuity and more severe uveitic complications when first seen, than those with non-JRA-associated uve-itis. Visual acuity improved by 2 or more lines in all patients, and in 13 eyes the final visual acuity was 20/40 or better. Postoperative complications included elevated intraocular pressure, posterior and anterior capsular opacities, and macular dysfunction. Conclusions: Compared with those with non-JRAassociated uveitis, children with JRA-associated uveitis tend to have more severe manifestations of disease when first seen and after surgery, but there is no significant difference in postoperative course or complications. Intraocular lens implantation, including small-incision, foldable, intraocular lenses, is well tolerated, when combined with aggressive medical treatment, for controlling inflammation. We believe that intraocular lens implantation is not contraindicated in those with pediatric uveitis, including uveitis associated with JRA.
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