[Outbreak of myopia in pediatrics : management, prevention and treatment]. / Épidémie de myopie en pédiatrie : prise en charge, prévention et traitement.

The worldwide incidence and prevalence of myopia has increased. The age of onset of this refractive disorder has inversely decreased. In addition to genetic and familial factors, environmental factors related to a sedentary lifestyle and activities in highly solicited near vision seem to have an impact on the development of axial myopia, that is an early and non-reversible elongation of the eyeball. Prevention of the development of myopia in pediatrics through simple daily measures plays therefore a fundamental role. In addition, pharmacological treatments, and specific optical treatments for controlling myopia have shown encouraging results in reducing the risk of long-term complications of progressive myopia, that is increased risk of developing cataract, glaucoma, retinal detachment, or maculopathy.

L'incidence et la prévalence mondiales de la myopie ont augmenté. L'âge de survenue de ce trouble réfractif a quant à lui diminué. Outre les facteurs génétiques et familiaux, des facteurs environnementaux liés à la sédentarité et aux activités en vision proche hautement sollicitée semblent avoir un impact sur le développement de la myopie axile, c'est-à-dire une élongation précoce et non réversible du globe oculaire. La prévention du développement de la myopie par des mesures quotidiennes simples joue donc un rôle fondamental. En outre, des traitements pharmacologiques et par moyens auxiliaires spécifiques dits « freinateurs ¼ ont montré des résultats encourageants pour diminuer le risque de complications à long terme de la myopie progressive, tels qu'un risque augmenté de développer une cataracte, un glaucome, un décollement de rétine ou une maculopathie.

The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.

The aim of this study was to identify the molecular genetic cause of disease in posterior polymorphous corneal dystrophy (PPCD) probands of diverse origin and to assess the utility of massively parallel sequencing in the detection of ZEB1 mutations. We investigated a total of 12 families (five British, four Czech, one Slovak and two Swiss). Ten novel and two recurrent disease-causing mutations in ZEB1, were identified in probands by Sanger (n = 5), exome (n = 4) and genome (n = 3) sequencing. Sanger sequencing was used to confirm the mutations detected by massively parallel sequencing, and to perform segregation analysis. Genome sequencing revealed that one proband harboured a novel ∼0.34 Mb heterozygous de novo deletion spanning exons 1-7 and part of exon 8. Transcript analysis confirmed that the ZEB1 transcript is detectable in blood-derived RNA samples and that the disease-associated variant c.482-2A>G leads to aberrant pre-mRNA splicing. De novo mutations, which are a feature of PPCD3, were found in the current study with an incidence rate of at least 16.6%. In general, massively parallel sequencing is a time-efficient way to detect PPCD3-associated mutations and, importantly, genome sequencing enables the identification of full or partial heterozygous ZEB1 deletions that can evade detection by both Sanger and exome sequencing. These findings contribute to our understanding of PPCD3, for which currently, 49 pathogenic variants have been identified, all of which are predicted to be null alleles.

Comparative Study of the Usefulness of the Binocular Spot Vision Screener Autorefractor in the Detection of Childhood Visual Disorders.

BACKGROUND: The Spot Vision Screener (SVS) is designed to detect significant ametropia, anisometropia, and strabismus in non-dilated eyes. This study evaluates the efficacy of the SVS in paediatric visual screening. PATIENTS AND METHODS: All children screened during the paediatric visual screening day in Lausanne in 2016 were evaluated with the SVS, conventional monocular autorefractors, and clinical orthoptic examination. Recommendations for a further eye examination of the SVS were compared with those issued from traditional clinical screenings (monocular refraction and orthoptic examination). RESULTS: One hundred and sixty-eight consecutive children were included. The median age was 3.9 years. The SVS median spherical equivalent (SE) was + 0.25 D OU and it detected seven cases of (4.2%) anisometropia (SE difference ≥ 1 D). The conventional monocular autorefractor median SE was - 0.13 D OU and 20 cases of anisometropia (11.9%) were detected. Refraction could not be measured in 1.2% of patients with SVS versus 17.2% with monocular refractors. The SVS screened two manifest strabismus cases against five manifest and > 100 latent strabismus with orthoptic examination. As expected, the SVS was unable to assess reactions to monocular occlusion, visual acuity, and stereovision as well as to detect ocular motility disorders without strabismus in the primary position, and missed two cases of abnormal Brückner reflexes. Overall, the SVS identified 66 suspect patients (39.3%) against 102 (60.7%) after complete clinical examination. CONCLUSIONS: The SVS can be a useful objective screening tool for non-ophthalmologists. However, because it fails to detect ocular motility troubles, organic visual acuity loss, or to assess the visual potential, it should only be used in association with a clinical examination, even in routine screening procedures.

Spontaneous consecutive esotropia.

PURPOSE: Although less frequent than consecutive exotropia, consecutive esotropia is a well-known type of strabismus when it follows the surgical correction of an exotropia. Spontaneous conversion from initial constant, large-angle exotropia beyond the age of 3 months to esotropia or orthophoria, however, is not common. We describe a series of infants who presented a spontaneous evolution from a large-angle infantile exotropia to either an orthophoria or a spontaneously consecutive esotropia. METHODS: Cases of infants examined in the pediatric neuro-ophthalmology clinic of a tertiary ophthalmology department between 2009 and 2015, and having presented an early large-angle exotropia that spontaneously converted into an esotropia or orthophoria-i.e., without any previous surgery or botulinum toxin injection-were studied. RESULTS: Ten cases (6 M:4 F) were followed up. Median age at first exotropia assessment was 3.88 months (SD = 6.35). Median age at spontaneous conversion to esotropia or orthophoria was 7.23 months (SD = 14.73). Six patients suffered from severe neurologic or metabolic diseases, three had neonatal respiratory distress syndrome, and one was healthy. CONCLUSION: Spontaneous conversion from initial large-angle exotropia to esotropia or orthophoria can be encountered. The cerebral maturation of visual structures probably accounts for this uncommon strabismus sequence.

Acetazolamide Reduces Retinal Inner Nuclear Layer Thickness in Microcystic Macular Edema Secondary to Optic Neuropathy.

Optic neuropathy (ON) is commonly complicated by microcystic macular edema (MME), that is, small vertical cystoid spaces in the inner nuclear layer (INL) of the macula. We performed a retrospective consecutive case series of 14 eyes from 11 patients with ON and MME that were treated with oral acetazolamide, acting on cellular water transport. Contralateral eyes without MME were used as controls. Segmentation of images obtained with OCT was used to determine changes of individual retinal layer thickness during treatment. Retinal INL thickness consistently decreased in all eyes after 2-3 weeks of treatment. Recurrence of MME was observed after treatment cessation. No significant change of retinal thickness was found in contralateral unaffected eyes. Visual function did not change with treatment. Acetazolamide significantly improved the MME in eyes with ON. However, visual function did not. Acetazolamide is a treatment option for MME associated with ON but without an impact on the visual function.

Spectrum of digoxin-induced ocular toxicity: a case report and literature review.

BACKGROUND: Digoxin intoxication results in predominantly digestive, cardiac and neurological symptoms. This case is outstanding in that the intoxication occurred in a nonagenarian and induced severe, extensively documented visual symptoms as well as dysphagia and proprioceptive illusions. Moreover, it went undiagnosed for a whole month despite close medical follow-up, illustrating the difficulty in recognizing drug-induced effects in a polymorbid patient. CASE PRESENTATION: Digoxin 0.25 mg qd for atrial fibrillation was prescribed to a 91-year-old woman with an estimated creatinine clearance of 18 ml/min. Over the following 2-3 weeks she developed nausea, vomiting and dysphagia, snowy and blurry vision, photopsia, dyschromatopsia, aggravated pre-existing formed visual hallucinations and proprioceptive illusions. She saw her family doctor twice and visited the eye clinic once until, 1 month after starting digoxin, she was admitted to the emergency room. Intoxication was confirmed by a serum digoxin level of 5.7 ng/ml (reference range 0.8-2 ng/ml). After stopping digoxin, general symptoms resolved in a few days, but visual complaints persisted. Examination by the ophthalmologist revealed decreased visual acuity in both eyes, 4/10 in the right eye (OD) and 5/10 in the left eye (OS), decreased color vision as demonstrated by a score of 1/13 in both eyes (OU) on Ishihara pseudoisochromatic plates, OS cataract, and dry age-related macular degeneration (ARMD). Computerized static perimetry showed non-specific diffuse alterations suggestive of either bilateral retinopathy or optic neuropathy. Full-field electroretinography (ERG) disclosed moderate diffuse rod and cone dysfunction and multifocal ERG revealed central loss of function OU. Visual symptoms progressively improved over the next 2 months, but multifocal ERG did not. The patient was finally discharged home after a 5 week hospital stay. CONCLUSION: This case is a reminder of a complication of digoxin treatment to be considered by any treating physician. If digoxin is prescribed in a vulnerable patient, close monitoring is mandatory. In general, when facing a new health problem in a polymorbid patient, it is crucial to elicit a complete history, with all recent drug changes and detailed complaints, and to include a drug adverse reaction in the differential diagnosis.

Nonsurgical treatment of cyclic esotropia.

Cyclic esotropia is characterized by a 24-hour period of straight eye position followed by 24 hours of large-angle esotropia. Possible mechanisms include notably progressive loss of compensation of a latent strabismus. The classic treatment is surgical correction of the angle measured on the days with manifest deviation. We report the first case of cyclic esotropia successfully treated by prismatic correction of the latent strabismus present on "straight" days.

[Eye and the environment]. / Œil et environnement.

The eyes are exposed to multiple environmental factors, which affect visual development, comfort, and visual health. While overexposure to sunlight can cause ocular surface and retinal pathologies, insufficient exposure to daylight could significantly contribute to myopia progression. New artificial lights, namely LED, have a higher risk of retinal phototoxicity, and could alter ocular circadian rhythm. The significant increase of prevalence of ocular allergies could be caused by the proliferation of environmental polluting substances, like tobacco smoke, fuel combustion by-products, or phtalates, which are found in many types of plastics. Finally, some dietary supplements could play a protective role in certain types of ocular pathologies, namely retinal pathologies.