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. RESULTS: Seven patients (14 eyes) with a mean age of 17.14 ± 6.28 months were included. Strabismus was the most common presenting symptom (6 of 7 patients, 86%). Clinical signs at the first diagnosis included peripheral retinoschisis in 13 eyes (13/14, 93%), of which 5 (5/13, 38%) were bullous, vitreous hemorrhage in 3 eyes (3/14, 21%), and retinal detachment in 3 eyes (3/14, 21%). The macula was involved in all eyes: It was detached in 2 eyes (2/14, 14%) and involved in the peripheral schisis in 4 eyes (4/14, 29%). In all remaining eyes, optical coherence tomography revealed foveoschisis. Six eyes (6/14, 42%) received surgery. At the last follow-up, visual acuity, when available, ranged from no light perception to 20/40, and no children had persistent retinal detachment. CONCLUSION: Children with early-onset X-linked retinoschisis had severe forms. All children had peripheral retinoschisis which was often bullous and extended to the macula. Diagnosis is often clinical but handheld optical coherence tomography can be helpful in atypical forms. Complications requiring surgical management are frequent.

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. RESULTS: Mean age at surgery was 8.6 ± 5.2 years (range: 2-16). Two out of 8 eyes were idiopathic. Corrected-distance visual acuity (CDVA) improved from 1.01 ± 0.45logMAR (range:0.3-1.5) at presentation to 0.60 ± 0.37 (range:0-1) at last follow-up (p = 0.03). Mean follow-up was 3.9 ± 3.9 years. Six eyes received at least one intravitreal injection of bevacizumab prior to surgery. Recurrence occurred in one eye with Best's disease.Literature review revealed a total of 42 cases with the most frequent etiologies being Presumed ocular histoplasmosis syndrome (POHS) and idiopathic CNV. Considering all cases together, mean CDVA improved from 1.00 ± 0.37logMAR to 0.52 ± 0.42 (p < 0.01). CNV recurrence occurred in 11 eyes (22.0%), 7 of which had an inflammatory etiology. Other complications included pigment epithelium tear, atrophy and retinal tear. CONCLUSION: Surgical removal of CNV is a viable, effective and safe option in children with persistent submacular neovascular membranes.

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. Results: A total of 158 children were included, of whom 29 (18.3%) were females and 11 (6.9%) had bilateral involvement. Age at diagnosis and disease stage were similar between females and males. Females had more bilateral involvement (p < 0.001) and tended to have a worse visual acuity at diagnosis (p = 0.05). At last follow-up, visual acuity and anatomical outcome after treatment were similar between genders. Conclusion: Female patients with Coats disease had more bilateral involvement and tended to have worse visual acuity at presentation. Clinical presentation and outcomes seemed to be similar between genders.

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. METHODS: We retrospectively studied all children under 7 years of age who underwent cataract surgery with IOL implantation at our institution between 2010 and 2015. Intraocular lens (IOL) power was calculated as follows: After B-scan determination of the emmetropic IOL power, a reduction of 40%, 35%, 30%, 25%, 20%, 15%, 10% and 5% was applied to children 0-3, 3-6, 6-12, 12-18, 18-24, 24-30, 30-36, 36-48 months, respectively. The following data were collected: follow-up, age at surgery, uni- or bilaterality, implanted IOL power and final refraction. RESULTS: During this period, 81 children (125 eyes) met the inclusion criteria with a median follow-up of 60 months (36-97). The median age at surgery was 6.61 months (0.76-48). We included 52 children with bilateral cataract (96 eyes) and 29 children with unilateral cataract (29 eyes). The mean implanted IOL power was 23.3 ± 4.6 diopters (D). The mean spherical equivalent at last follow-up was 0.07 ± 3.5 D. CONCLUSION: Our undercorrection formula for IOL implantation after congenital cataract surgery leads to long-term refractive results globally close to emmetropia.

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. The Fischer and chi-square tests were used in the statistical evaluation. RESULTS: Twenty-six children were eligible for inclusion. The mean patients age at presentation was 4.2 years (range, 8 days-14.3 years). With regard to etiology, patients were divided into posttraumatic group (n = 7 (26.9%)), postoperative group (n = 15 (57.7%)), endogenous group (n = 3 (11.5%)), and infectious corneal ulcer group (n = 1 (3.9%)). Time-to-onset of symptoms was highest in children ≤ 3 years old and in the postoperative subgroup who had at least one glaucoma procedure. Microbiology results showed growth in 12/26 (46.2%). The most common microorganism identified was Streptococcus pneumoniae (5/12 (41.7%)). The antibiotic regimen varied depending on age, organism, and sensitivities. The final visual outcomes were 20/200 or better in 11/26 (42.3%) eyes, and 13/26 (50.0%) eyes had no light perception. Twelve of twenty-six (46.2%) eyes ended up with phthisis bulbi. CONCLUSION: Pediatric endophthalmitis is a rare but devastating condition with poor visual prognosis, requiring prompt recognition and treatment. Despite aggressive management with antibiotics and vitrectomy, the visual prognosis is generally poor. A protocol for management with an adapted systemic antibiotic therapy is proposed in order to improve outcomes.

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. The intervention used was pediatric cataract surgery with IOL implantation, and the primary outcome measure was the presence or absence of secondary glaucoma. RESULTS: The mean age at surgery was 148 ± 93 days (range 30-359 days) with a mean follow-up of 6.3 ± 3.6 years (range 1.1-12.8 years). Glaucoma developed in 31 eyes (16%) with 5- and 10-year incidence rates of 12% and 28%, respectively. The incidence of glaucoma seemed to be bimodal, with a first peak occurring after a mean delay of 2.5 months (range 1.6-4.1 months) and a second peak occurring after a mean delay of 5.7 years (range 2.6-11.7 years). Younger age at surgery, shorter axial length, longer follow-up, use of trypan blue, reintervention, and bilateral surgery were associatied with a higher incidence of glaucoma. Multivariate analysis including the aforementioned variables indentified longer follow-up (odds ratio [OR] = 1.3 [95% confidence interval {CI} 1.1-1.6], P = .001), reintervention (OR = 4.1 [95% CI 1.2-13.4], P = 0.02), and the use of trypan blue (OR = 4.1 [95% CI 1.3-13.1], P = .02) as predictors for the development of glaucoma. CONCLUSION: Glaucoma is a common complication after pediatric cataract surgery. It seemed to have a bimodal incidence. Risk factors for glaucoma development were reintervention, the use of trypan blue, and a long 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. Follow-up time was at least 6 months. Main outcome measure was surgical failure (defined as one of the following: (1) deterioration of visual acuity and stage, (2) persistence or development of total retinal detachment, (3) phthisis). RESULTS: After a mean follow-up of 3.3 ± 3.4 years (median 2.3; 0.5-15.7 years), surgery was successful in 30 eyes (70%) and failed in 13 eyes (30%). Twenty-one eyes (49%) improved, 13 (30%) remained stable, and 9 (21%) deteriorated. Postoperatively, stages and VA improved significantly (p = 0.001; p = 0.04, respectively). Surgical failure was only observed on patients with stages 4 and 5. Mean macular thickness decreased significantly in eyes (stages 2 and 3) with tractional epiretinal membrane. CONCLUSION: Eyes with tractional epiretinal membrane in stages 2 and 3 seem to benefit from vitrectomy and membrane peeling with a positive risk-benefit profile. Advanced stages have a low success rate and limited functional improvement, but in selected cases, surgery seems beneficial.

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.

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. The mean follow-up was 35.39 months (8.72-69.57). The mean BCDVA before surgery and at the end of follow-up was 1.11 (0.40-2.30; SD: 0.57) and 0.48 (0-3; SD: 0.77; p=0.007) respectively. The mean oral corticosteroids dosage after surgery and at the end of follow-up was 0.80 mg/kg/day (SD: 0.37) and 0.17 mg/kg/day (SD: 0.24; p=0.001) respectively. All patients except one were treated with methotrexate. Four patients (5 eyes) were additionally treated with anti-tumor necrosis factor agent. CONCLUSIONS: Cataract surgery with primary posterior chamber hydrophobic IOL implantation is possible and leads to a good visual recovery in cases of pediatric chronic uveitis. This surgery requires aggressive anti-inflammatory management with immunosuppressive drugs to control inflammation and reduce the corticosteroids dosage.

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. A total of 68 eyes were included, 40 from 23 children and 28 from 14 adults, with a corrected distance VA above 20/25 and a normal near VA (20/25) with +3 addition. Pseudo-accommodation was defined as a near VA better than 20/50 with the distance correction and without addition. Prevalence of pseudo-accommodation was calculated in each group. In order to determine the possible mechanisms of pseudo-accommodation in children, we compared children with pseudo-accommodation and adults without pseudo-accommodation regarding several parameters: refraction, axial length, corneal topography, aberrometry, pupillary diameter and IOL shift after cyclopentolate instillation. RESULTS: Among the children group, 36 (90 %) had pseudo-accommodation versus 2 (7 %) in the adult group. We found that spherical equivalent, implant power, corneal multifocality and corneal higher-order aberrations (mainly coma and trefoil) were significantly higher in the pseudo-accommodation group, while pupil diameter and implant shift were not significantly different. CONCLUSIONS: Pseudo-accommodation has a high prevalence among non-amblyopic pseudophakic children. Several possible mechanisms have been found to explain pseudo-accommodation in children: a high power of the IOL and a small axial length, maximizing the effect of the IOL shift, corneal multifocality and corneal higher-order aberrations.

LONG-TERM OUTCOME OF EPIRETINAL MEMBRANE SURGERY IN YOUNG CHILDREN.

PURPOSE: To describe the clinical characteristics of epiretinal membranes (ERMs) secondary to nonprogressive diseases in very young children and to assess their surgical outcome. METHODS: Retrospective interventional case series study of 13 pediatric patients (aged less than 12 years) operated on for ERM more than a 6-year period. Visual acuity measurement, ophthalmic examination, and optical coherence tomography imaging were assessed preoperatively and postoperatively. RESULTS: Mean age was 6.5 years (3-12 years). Mean follow-up duration was of 28.5 months (12-69 months). Among the 13 patients, there were 7 cases of idiopathic ERM, 4 cases of combined hamartoma of the retina and retinal pigment epithelium, and 2 cases of posttraumatic ERM. The diagnosis of ERM was fortuitous in 10 cases (77%). Twelve children (92%) experienced a functional improvement. All patients received adjuvant treatment of amblyopia. Best-corrected visual acuity improved significantly after surgery from 20/160 to 20/40 (P = 0.001). CONCLUSION: Even in very young children, surgery resulted in a significant long-term improvement. Children screening was essential for diagnosis and treatment in most cases.

Ectopia lentis associated with primary congenital glaucoma.

PURPOSE: To describe 3 cases of ectopia lentis (EL) associated with primary congenital glaucoma (PCG) and differentiate between primary and secondary EL regarding pathogenesis. METHODS: We reviewed the clinical charts of 3 children previously diagnosed with congenital glaucoma who developed secondary EL. The following points were noted: medical and surgical history, refraction, keratometry, corneal diameter, axial length (AL), intraocular pressure, and cup/disc ratio. RESULTS: The 3 patients were respectively aged 12, 3, and 4 months. A trabeculectomy was performed in both eyes at 1-week interval in all cases. The EL was noted during follow-up controls. Lensectomy/vitrectomy was performed in 2 patients, in case of high astigmatism (>5.00 D) and/or the lens border visible in the pupillary area. Postoperative refraction was hyperopic. CONCLUSIONS: Ectopia lentis secondary to PCG should be differentiated from primary EL regarding pathogenesis. Anterior segment distension appears to be the principal mechanism in these cases. Postoperative hyperopia is observed despite the increased AL secondary to PCG. These biometric results are due to global distension of the globe, which also flattens the cornea with consequently lower refractive effect.

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. RD3 (LCA12) was implicated as a LCA gene based on the identification of homozygous truncating mutations in two LCA families despite the screening of large cohorts of patients. Here we provide a comprehensive survey of RD3 mutations and of their clinical expression through the screening of a cohort of 852 patients originating worldwide affected with LCA or early-onset and severe RD. We identified three RD3 mutations in seven unrelated consanguineous LCA families - i.e., a 2 bp deletion and two nonsense mutations - predicted to cause complete loss of function. Five families originating from the Southern Shores of the Mediterranean segregated a similar mutation (c.112C>T, p.R38*) suggesting that this change may have resulted from an ancient founder effect. Considering the low frequency of RD3 carriers, the recurrence risk for LCA in non-consanguineous unions is negligible for both heterozygote and homozygote RD3 individuals. The LCA12 phenotype in our patients is highly similar to those of patients with mutant photoreceptor-specific guanylate cyclase (GUCY2D/LCA1). This observation is consistent with the report of the role of RD3 in trafficking of GUCYs and gives further support to a common mechanism of photoreceptor degeneration in LCA12 and LCA1, i.e., inability to increase cytoplasmic cGMP concentration in outer segments and thus to recover the dark-state. Similar to LCA1, LCA12 patients have no extraocular symptoms despite complete inactivation of both RD3 alleles, supporting the view that extraocular investigations in LCA infants with RD3 mutations should be avoided.

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. Suture ablation was performed between the first and second postoperative month and all patients had spectacle correction and amblyopia treatment. Age at time of surgery, posterior segment status evaluated by ultrasonography, axial length, preoperative intraocular pressure, fellow eye status, mean follow-up time, early and late complications, final graft outcome, refraction, and visual acuity upon the last visit were noted. RESULTS: Mean age at the time of surgery was 9 months. Posterior segment was normal in all cases. Mean axial length was 18 mm and mean intraocular pressure was 11 mmHg. Mean follow-up was 30 months. Four children had graft rejection episodes, 2 of which responded to medication. Four underwent cataract surgery, one developed pupil deformation requiring a pupilloplasty, and 2 cases were complicated by surgical glaucoma. A total of 11 eyes (78.6%) had clear grafts at the end of the follow-up. Mean spherical equivalent was -1.5 D. Visual acuity was measurable in 3 cases and was 20/50 in one case, 20/63 in the second, and 20/2000 in the third. Concerning preverbal children, central, steady, and maintained fixation was found in 8 cases. CONCLUSIONS: Operating on a unilateral congenital corneal opacity is a challenging decision and should be taken after explaining the need for long-term follow-up to the parents. Useful vision can be achieved and maintained after strict amblyopia therapy. A multidisciplinary ophthalmologic follow-up is necessary.

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. RESULTS: In 15 patients (15 eyes), with a mean follow-up of 28 months (range, 6 months to 7 years), Coats disease was diagnosed at a mean age of 3.4 years (range 3 months to 15 years). Primary management was laser photocoagulation in seven patients, cryotherapy in two, and vitreoretinal surgery in six. Additional treatment was necessary in nine patients of whom six had laser photocoagulation, one had cryotherapy, and two had vitreoretinal surgery. Visual stability was achieved in 12 cases. Anatomic improvement was achieved in 12 eyes (3 cases of phthisis bulbi). No enucleation was ultimately necessary. CONCLUSIONS: Carefully selected treatment can improve almost each eye with Coats disease complicated by retinal detachment. Although visual outcome is poor, anatomic improvement or stability is the main goal of the management.

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. The technique consisted of lens ablation, leaving in place the capsule in the zone of nonruptured zonule, and an IOL placement in the remaining sulcus with 2 iris sutures. The age of patients, postoperative complications, follow-up, anatomical results, final refraction, and visual acuity were noted. RESULTS: Median age was 4.8 years. One case of postoperative hyphema and 1 case of aseptic endophthalmitis occurred and resolved after treatment. The anatomical outcome was favorable in all cases, with centered IOLs and round pupils. Mean follow-up was 16.3 months. Mean final refraction was +0.18 diopter, and mean final best corrected visual acuity was 20/32 (range 20/50 to 20/20). CONCLUSIONS: The results suggest that iris fixation of foldable IOLs for ectopia lentis in children can lead to good anatomical and functional results. The use of the remaining part of the sulcus is helpful in reaching correct positioning of the IOL. The complication rate is similar to that with other techniques described in the literature, whereas the small incision and the absence of transscleral sutures could simplify the short-term and long-term evolution.

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. The present study was designated to check patients' HLA-A*2901 subtyping and the polymorphisms available in the HLA region in patients and control subjects sharing the A*2901 and A*2902 subtypes. METHODS: HLA-A29 was assessed and subtyped by molecular biology. cDNA from one patient (HLA-A*2901) was sequenced. A29.1 antigenic expression on peripheral blood lymphocytes was checked by microlymphocytotoxicity (MLCT). Four homozygous A29.2 and 4 heterozygous A29.2 patients, 3 homozygous A29.2 healthy subjects, 3 heterozygous A29.1 patients, and 11 heterozygous A29.1 healthy subjects were tested for the microsatellite alleles MOGa, -b, -c, and e (of the myelin oligodendrocyte glycoprotein [MOG]gene), D6S265, D6S510, RF, C5_4_5, D6S105, and D6S276 and the mutation H63D of the familial hemochromatosis gene (HFE). RESULTS: The patients' cDNA sequences and MLCT reactivities of HLA-A29.1 subtypes were found to be identical with published data from healthy individuals. Surprisingly, though A*2901 and A*2902 differed only by a single mutation (G376C/ D102H) two strong A*2901 and A*2902 complotypes were observed in patients and control subjects, the polymorphisms being identical at all loci near HLA-A, whereas more distant loci exhibited some diversity. CONCLUSIONS: Susceptibility to BSCR thus appeared to be located between the left and right remote markers C5_4_5 and D6S276, if not relying on the HLA-A29 molecule itself.