AimsTo determine a normative of tumbling E optotype and its feasibility for visual acuity (VA) assessment in children aged 3-4 years.MethodsA cross-sectional study of 1756 children who were invited to participate in a comprehensive non-invasive eye exam. Uncorrected monocular VA with crowded tumbling E with a comprehensive ophthalmological examination were assessed. Testability rates of the whole population and VA of the healthy children for different age subgroups, gender, school type and the order of testing in which the ophthalmological examination was performed were evaluated.ResultsThe overall testability rate was 95% (92% and 98% for children aged 3 and 4 years, respectively). The mean VA of the first-day assessment (first-VA) and best-VA over 2 days’ assessments was 0.14 logMAR (95% CI 0.14 to 0.15) (decimal=0.72, 95% CI 0.71 to 0.73) and 0.13 logMAR (95% CI 0.13 to 0.14) (decimal=0.74, 95% CI 0.73 to 0.74). Analysis with age showed differences between groups in first-VA (F(3,1146)=10.0; p<0.001; η2=0.026) and best-VA (F(3,1155)=8.8; p<0.001; η2=0.022). Our normative was very highly correlated with previous reported HOTV-Amblyopia-Treatment-Study (HOTV-ATS) (first-VA, r=0.97; best-VA, r=0.99), with 0.8 to 0.7 lines consistent overestimation for HOTV-ATS as described in literature. Overall false-positive referral was 1.3%, being specially low regarding anisometropias of ≥2 logMAR lines (0.17%). Interocular difference ≥1 line VA logMAR was not associated with age (p=0.195).ConclusionsThis is the first normative for European Caucasian children with single crowded tumbling E in healthy eyes and the largest study comparing 3 and 4 years old testability. Testability rates are higher than found in literature with other optotypes, especially in children aged 3 years, where we found 5%–11% better testability rates.

Purpose: The aim of this study was to describe ophthalmological abnormalities in 14 cases of Wolfram syndrome belonging to 9 different families. Methods: Patients were submitted to a complete ophthalmological, neurological, otorhinolaryngological, urological, and genetic evaluation. Results: Our sample comprised 14 Caucasian patients belonging to 9 different families. Their ages ranged from 10 to 38 years. The mean duration of known disease was 11.3 ± 8.7 years. Genetic confirmation was obtained in 7 families. There was a parental consanguinity history in 2 families. Five families were homozygous for a mutation of exon 8 of the WFS1 gene (Chr. 4), and 2 patients were heterozygous. Diabetes mellitus was the first manifestation in all except 1 patient. The mean age at diagnosis was 8.7 years (range 3–22). None had diabetic retinopathy. The mean age at diagnosis of optic atrophy was 11.1 years (range 8–35). The best-corrected visual acuity ranged from counting fingers to 20/50. Conclusions: Association of optic atrophy with insulin-dependent diabetes mellitus should raise the suspicion of Wolfram syndrome.

ObjectiveTo study the effectiveness of amblyopia screening at ages 3–4.Methods and AnalysisFrom a population with no previous screening, a cohort of 2300 children with 3–4 years old attending school (91% of children this age attend school in Portugal), were submitted to a complete ophthalmological evaluation. Amblyopia was diagnosed, treated and followed. Amblyopia prevalence, treatment effectiveness, absolute risk reduction (ARR), number needed to screen (NNS) and relative risk reduction (RRR) were estimated.ResultsPast/present history of amblyopia was higher than 3.1%–4.2%, depending on amblyopia definition normatives. Screening at age 3–4, had estimated ARR=2.09% (95% CI 1.50% to 2.68%) with a reduced risk of amblyopia in adulthood of 87% (RRR). NNS was 47.8 (95% CI 37.3 to 66.7). Treatment effectiveness of new diagnosis was 88% (83% if we include children already followed). 91% of new amblyopia diagnoses were refractive (of which 100% surpassed amblyopia Multi-Ethnic Pediatric Eye Disease Study criteria after treatment), while most strabismic amblyopias were already treated or undertreatment. Only 30% of children with refractive amblyopia risk factors that were not followed by an ophthalmologist, ended up having amblyopia at age 3–4. Eye patch was needed equally in new-diagnosis versus treated-earlier refractive amblyopia.ConclusionsScreening amblyopia in a whole-population setting at age 3–4 is highly effective. For each 48 children screened at age 3–4, one amblyopia is estimated to be prevented in the future (NNS). Screening earlier may lead to overdiagnosis and overtreatments: Treating all new diagnosis before age 3–4 would have a maximal difference in ARR of 0.3%, with the possible burden of as much as 70% children being unnecessary treated before age 3–4.Involving primary care, with policies for timely referral of suspicious/high-risk preverbal children, plus whole screening at age 3–4 seems a rational/effective way of controlling amblyopia.

Purpose: To analyze how the Plusoptix S04 (Plusoptix, Atlanta, GA), a widely used technology for amblyopia screening, predicts amblyopia. Methods: A total of 1,547 children aged 3 to 4 years underwent a non-invasive eye examination in a whole population screening. The Plusoptix was measured binocularly three consecutive times. Seven models were developed: the first (P1), second (P2), and third (P3) measure of Plusoptix, the mean of P1, P2, and P3 (Pmean123), the maximal value of P1, P2, and P3 (Pmax123), the mean of P1 and P2 (Pmean12), and the maximal value of P1 and P2 (Pmax12). Results: Internal consistency was excellent for sphere, cylinder (alpha = 0.92 vs 0.97), aniso-sphere, and aniso-cylinder (alpha = 0.87 vs 0.86). All models predicted amblyopia ( P < .001); there was 2.3% new diagnosis and 5.1 events per variable. A bootstrap analysis with 1,000 samples confirmed the stability of the model. Astigmatism ( P < .001; odds ratio [OR] = 2.1 to 3.6) and aniso-sphere ( P < .001; OR = 3.6 to 9.0) predicted amblyopia. Although sphere, when measurable, did not predict amblyopia ( P > .19; OR = 1.2 to 1.3), the likelihood of amblyopia presence was 100 times higher when the Plusoptix displayed “hyper.” All receiver operating characteristic (ROC) curves were significant ( P < .001), with no differences between them (all P > .16). Adjusting the cut-off from ROC curves for the highest sensitivity, Pmax12 referred 31.9% and 16.1% fewer patients than P1 and Pmean12, respectively. A third measure revealed accommodation-related false-negative results; therefore, adding measurements showed no benefit. Conclusions: This was the first study to assess the Plusoptix's prediction of amblyopia. When aiming for maximal sensitivity, the Plusoptix refers many children (> 20% children in all models). The first measure refers more children than two measures. Non-measurable results must be considered abnormal because the chance of amblyopia presence was high. [ J Pediatr Ophthalmol Strabismus . 2019;56(5):305–312.]