Dépistage des troubles visuels à l’âge scolaire: les données du projet pilote PlanVue®

International audiencePurpose: To assess the prevalence of visual disturbances among school-aged children in prioritized education zones in France. Methods: The PlanVue® pilot project was designed to detect and manage visual disturbances in school-aged children in the prioritized education areas of the city of Nanterre, France. During this pilot study, a cohort of 515 children aged 4 to 13 years underwent a school vision screening between January and March 2019, consisting of an overall evaluation of the child's visual behavior, measurement of uncorrected visual acuity in each eye, objective refraction with a photoscreener and strabismus screening. If the examination was abnormal as determined by impaired vision or an algorithm based on the abnormalities found, the children were referred to an ophthalmologist. Results: Decreased visual acuity was found in 20% of school-aged children. Out of the 515 children screened, 22% were referred to an ophthalmologist. Among these children, 13% were diagnosed with amblyopia, 73% with spherical ametropia, 57% with astigmatism and 2% with strabismus. Of the entire population screened, 12% of the children needed optical correction but had not received glasses. Conclusion: This study confirms the high prevalence of uncorrected refractive errors among school-age children. A screening program carried out in a school environment by paramedical professionals might make it possible to considerably reduce the rate of uncorrected visual disorders and their consequences

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion

Aniridia, Wilms tumor, genitourinary abnormalities, growth and mental retardation are the cardinal features of the WAGR 11p13 deletion syndrome. The Potocki?Schaffer syndrome or proximal 11p deletion syndrome (previously DEFECT11 syndrome) is a contiguous gene syndrome associated with deletions in 11p11.2, principal features of which are multiple exostoses and enlarged parietal foramina. Mental handicap, facial dysmorphism and craniosynostosis may also be associated. We report a patient with combined WAGR and Potocki?Shaffer syndromes, and obesity. She presented with aniridia, cataract, nystagmus, corneal ulcers and bilateral congenital ptosis. A left nephroblastoma was detected at 15 months. Other features included moderate developmental delay, growth deficiency, facial dysmorphism, multiple exostoses and cranial lacunae. High-resolution and molecular cytogenetics confirmed a del(11)(p11.2p14.1) deletion with a proximal breakpoint between the cosmid DO8153 and the BAC RP11-104M24 to a distal breakpoint between cosmids CO8160 (D11S151) and F1238 (D11S1446). The deletion therefore includes EXT2, ALX4, WT1 and PAX6. This case appears to be the second patient reported with this combined deletion syndrome and confirms the association of obesity in the WAGR spectrum, a feature previously reported in four cases, and for which the acronym WAGRO has been suggested. Molecular and follow-up data on the original WAGRO case are briefly presented

Aniridic glaucoma: diagnosis and treatment

Aniridia is a bilateral iris aplasia/hypoplasia, associated with other ocular anomalies arising during the childhood: nystagmus, photophobia, amblyopia, keratopathies, cataract and lens luxation, glaucoma, fovea and optic nerve hypoplasia. In 6-75 % of cases aniridia is accompanied by a dysgenetic secondary glaucoma caused by an iridogoniodysgenesis for abnormal migration of neural crest neuroectodermal cells, and a higher vulnerability of the optic nerve head for possible microstructural alterations in lamina cribrosa. Congenital glaucoma associated with aniridia is uncommon. The poor young patient collaboration for several clinical and instrumental analyses entails in many cases the need of examinations under general anesthesia. Medical therapy represents the first step, whereas low-responsive patients may undergo laser treatments (transscleral diode laser cyclophotocoagulation or cyclocryotherapy) and/or surgery (trabeculectomy with or without antimetabolites). Refractory cases, frequently with an early onset, require glaucoma drainage devices (Molteno implant, Ahmed valve, or Baerveldt tube shunt). A prophylactic goniotomy can be performed with a long-term effectiveness in reducing risks of aniridic glaucoma onset or progression. \ua9 Springer International Publishing Switzerland 2015. All rights are reserved