A Proposed Method for Estimating Refractive Error in Primary School Children.

Background This study aimed to evaluate consecutive measurements of biometric parameters, age, and refraction in a cohort of Turkish primary school-age children and to assess the correlation between biometric changes and refraction. Methodology The study population was seven and 12-year-old children (n = 197). The retrieved data consisted of three consecutive measurements with a one-year interval for each subject. Data from one eye (right) were used. Age, gender, body mass index, spherical equivalent (SE), axial length (AL), anterior chamber depth (ACD), central corneal thickness (CCT), keratometry (K), and lens thickness (LT) were analyzed. The onset and final data were retrieved from the database in 2013 and 2016, respectively. Statistically, logistic and Cox regression models of all parameters were analyzed, and the significance level was set at 5%. Results The median of the onset and final SE values were -0.00 D (0.00-0.00) and 0.50 D (0.19-1.00), respectively. The onset AL (hazard ratio (HR) = 5.82, 95% confidence interval (CI) = 3.45-9.76, ß = 1.76, p < 0.001), Kmean (HR = 2.28, 95% CI = 1.67-3.11, ß = 0.82, p < 0.001), and age (HR = 0.77, 95% CI = 0.59-0.99, ß = -0.26, p = 0.046) were correlated with myopia progression. To calculate the estimated SE, the onset data were included in the logistic regression model. The onset SE (ß = 0.916, p < 0.001), AL (ß = -0.451, p < 0.001), ACD (ß = 0.430, p = 0.005), and K (ß = -0.172, p < 0.001) were correlated with the mean final SE. An equation was generated using the regression model analysis. Conclusions The onset parameters of SE, AL, ACD, and K were confirmed to correlate with the final SE values in the proposed model. To confirm the use of the refractive calculator, a cross-validation analysis is needed to estimate three-year subsequent refractive error among seven and 12-year-old children.

Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome.

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare autosomal dominant disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, hearing loss, and optic nerve atrophy. This syndrome is caused by loss-of-function variants in the nuclear receptor subfamily 2 group F member 1 (NR2F1) gene. To date, approximately 80 patients have been reported with BBSOAS. Here, we describe a 3-year-old infant with delayed development, intellectual disability, strabismus, nystagmus, and optic atrophy with well-characterized features associated with BBSOAS. Whole-exome sequencing revealed a novel heterozygous missense mutation (NM_005654.6:c.437G>A, p.Cys146Tyr) in the NR2F1 gene. This missense variant is predicted to be deleterious by the protein prediction tools (SIFT, PolyPhen-2, and MutationTaster). To the best of our knowledge, this is the first patient with BBSOAS reported from Turkey.

Two cases of hypotropia and dissociated vertical deviation treated with oblique muscle surgery.

The authors report two cases with vertical deviations. The first patient had right exotropia and hypotropia and left inferior oblique overaction and was treated with left inferior oblique muscle weakening and bilateral lateral rectus muscle recession. The second patient had chin-up posture and right dissociated vertical deviation and was treated with bilateral superior oblique posterior tenotomy.