SYMPTOMATIC EARLY-ONSET X-LINKED RETINOSCHISIS: Clinical Presentation and Outcomes.

Purpose: To describe clinical characteristics and outcomes of children with early-onset X-linked retinoschisis.

Methods: In this retrospective consecutive case series, we included children diagnosed with symptomatic X-linked retinoschisis younger than 2 years. Presenting signs, clinical characteristics, treatments, and outcomes were recorded.

Coats disease in female population: A comparison of clinical presentation and outcomes.

Purpose: To compare clinical characteristics at presentation and outcomes of Coats disease between females and males.

Methods: In this retrospective, consecutive case series we included all children diagnosed with Coats disease in a single tertiary referral center. Initial clinical presentation, treatment and outcomes were collected.

Surgical removal of submacular choroidal neovessels in children: Outcome and literature review.

Purpose: To report on the outcome of surgical submacular choroidal neovascular membrane (CNV) removal in children and to perform a comprehensive review of literature concerning this intervention in children.

Methods: In this retrospective, noncomparative, interventional case series, we included 8 eyes of 7 consecutive children with subfoveal choroidal neovascularization treated by pars plana vitrectomy (PPV) and CNV removal. Main outcome measures were visual acuity and complications.

Congenital cataract surgery: long-term refractive outcomes of a new intraocular lens power correction formula.

Purpose: The final refraction after intraocular lens (IOL) implantation remains a challenge in the management of paediatric cataracts. No consensual guidelines exist for the choice of IOL power. The aim of this study was to validate a method of IOL power calculation by evaluating the final refractive error in all patients with IOL implantation operated at our institution.

Pediatric endophthalmitis: clinical profile, outcomes, and a proposed protocol.

Purpose: To investigate the clinical profile and visual outcomes of infectious endophthalmitis in children at a single tertiary hospital in France, and propose an evidence-based protocol for management.

Methods: This is a retrospective monocentric study that involved children with a history of endophthalmitis between January 2008 and January 2020. The clinical characteristics, etiology, microbiological spectrum from aqueous/vitreous tab, anatomical and visual outcomes, and management were analyzed.

Incidence and Risk Factors of Glaucoma Following Pediatric Cataract Surgery With Primary Implantation.

Purpose: To determine the incidence and risk factors for glaucoma after pediatric cataract surgery with intraocular lens (IOL) implantation.

Design: Retrospective, consecutive case series.

Methods: In this single-center study, we reviewed 136 children (199 eyes) who underwent pediatric cataract surgery before 1 year of age with a minimum of 1 year of follow-up.

Outcome and risk factors of vitreoretinal surgery in pediatric patients with familial exudative vitreoretinopathy.

Purpose: To evaluate the outcome for vitreoretinal surgery in children with familial exudative vitreoretinopathy (FEVR) and to evaluate the risk factors associated with failure.

Methods: This is a retrospective interventional case series of 43 consecutive eyes (34 patients) with vitreoretinal surgery for FEVR. Ocular status prior to intervention and at last follow-up and all surgical steps were recorded.

Congenital Achiasma.

In evaluating a 3-month-old boy with horizontal nystagmus, brain MRI revealed absence of the optic chiasm. The remainder of the brain was normal in appearance. Achiasma was confirmed with diffusion tensor imaging and best visualized with optimized probabilistic-based tractography.

Pseudo-accommodation in non-amblyopic children after bilateral cataract surgery and implantation with a monofocal intraocular lens: prevalence and possible mechanisms.

Background: Some pseudophakic patients implanted with a monofocal intraocular lens (IOL) have good near visual acuity (VA) with their distance correction. The objective was to evaluate the prevalence of pseudo-accommodation in children after bilateral cataract surgery, without amblyopia, and to define its mechanisms.

Methods: Observational study that took place in a pediatric ophthalmology department, Paris, France.

Cataract Surgery with Primary Lens Implantation in Children with Chronic Uveitis.

Purpose: To evaluate the evolution of chronic uveitis in children undergoing cataract surgery with primary intraocular lens (IOL) implantation.

Methods: Twelve children with chronic uveitis underwent cataract surgery with primary posterior chamber intraocular lens (IOL) implantation.

Results: Fourteen eyes were implanted with a foldable hydrophobic acrylic IOL.

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration (RD), and the most common cause of incurable blindness diagnosed in children. It is occasionally the presenting symptom of multisystemic ciliopathies which diagnosis will require a specific care of patients. Nineteen LCA genes are currently identified and three of them account for both non-syndromic and syndromic forms of the disease.

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

In addition to its activity in nicotinamide adenine dinucleotide (NAD(+)) synthesis, the nuclear nicotinamide mononucleotide adenyltransferase NMNAT1 acts as a chaperone that protects against neuronal activity-induced degeneration. Here we report that compound heterozygous and homozygous NMNAT1 mutations cause severe neonatal neurodegeneration of the central retina and early-onset optic atrophy in 22 unrelated individuals. Their clinical presentation is consistent with Leber congenital amaurosis and suggests that the mutations affect neuroprotection of photoreceptor cells.

Should unilateral congenital corneal opacities in Peters' anomaly be grafted?

Purpose: To evaluate the surgical outcomes and visual results after penetrating keratoplasty for congenital unilateral corneal opacities in Peters anomaly.

Methods: This was a retrospective study of 14 children who underwent keratoplasty for a unilateral Peters anomaly between 1999 and 2009. All patients received a topical treatment of cyclosporine and corticosteroids.

Management of retinal detachment in Coats disease. Study of 15 cases.

Purpose: To correlate the final outcome with the initial presentation and treatment in Coats disease retinal detachment.

Methods: The records of 15 patients with retinal detachment were evaluated retrospectively regarding the age at the time of diagnosis, initial presentation, methods of treatment, visual and anatomic results, and complications. Changes in vision and retinal status were noted and correlated with the different methods of treatment to propose a therapeutic strategy.

Iris fixation of foldable intraocular lenses for ectopia lentis in children.

Purpose: To describe a technique for iris fixation of acrylic intraocular lenses (IOLs) in ectopia lentis and evaluate the medium-term anatomical and functional results in children.

Setting: Pediatric Ophthalmology Department, Fondation Rothschild, Paris, France.

Methods: This retrospective study included 17 eyes of 9 children.

Different HLA class IA region complotypes for HLA-A29.2 and -A29.1 antigens, identical in birdshot retinochoroidopathy patients or healthy individuals.

Purpose: Birdshot retinochoroidopathy (BSCR) is a rare posterior uveitis characterized by distinctive, multiple, hypopigmented choroidal and retinal lesions. At least 96% of patients, if not all, share the major histocompatibility antigen HLA-A29. Although it was hypothesized earlier that more frequently the A*2902 subtype was closely associated with BSCR, new patients were found to share the A*2901 subtype and were further investigated.