A novel missense mutation of CRYBA1 in a northern Chinese family with inherited coronary cataract with blue punctate opacities.

PURPOSE: To demonstrate the underlying genetic defect that contribute to inherited cataract in a northern Chinese pedigree. METHODS: The study recruited a family pedigree with a diagnosis of bilateral coronary cataract with blue punctate opacities. Fourteen family members and 100 healthy volunteers were enrolled. DNA sample of the proband in this family were analyzed by high-throughput sequencing, which was then demonstrated by Sanger sequencing in the remained people in the family and 100 controls. The functional effect of mutant genes was investigated via bioinformatics analysis, including Polymorphism Phenotyping version2 (PolyPhen-2), Protein Variation Effect Analyzer (PROVEAN v1.1.3) Scale-Invariant Feature Transform (SIFT), and Mutation Taster. RESULTS: In this three-generation family, a novel heterozygous mutation was found in the kinase domain of CRYBA1 gene (c.340C > T, p.R114C), which was only detected in patients in the family with inherited cataract and were not detected in the remained people in the family nor in normal people. The pathogenic effect of the mutation was verified via bioinformatics analysis. CONCLUSION: Our study presented the molecular experiments to confirm that a novel missense mutation of c.340 C > T located in exon 4 of CRYBA1 gene results in a bilateral coronary cataract with blue punctate opacities, which enriches the mutation spectrum of CRYBA1 gene in inherited cataract and deepens the understanding of the pathogenesis of inherited cataract.

Macular Choroidal Thickness in Children: The Shandong Children Eye Study.

PURPOSE: To examine the thickness of the macular choroid and its associations in school children aged 6 to 18 years. METHODS: The school-based cross-sectional Shandong Children Eye Study included 6026 (94.7%) of 6364 eligible children fulfilling the inclusion criterion of an age from 4 to 18 years. Spectral-domain optical coherence tomography (SD-OCT) was performed for a subgroup of 972 school children aged 6+ years. All participants underwent ocular examinations, including measurement of visual acuity, cycloplegic refractometry, biometry, and SD-OCT (enhanced depth imaging mode) for measurement of choroidal thickness. RESULTS: The study included 972 children (501 girls) with a mean age of 11.3 ± 3.3 years (range, 6-18 years) and mean axial length of 24.10 ± 1.56 mm (range, 16.57-28.82 mm). Mean choroidal thickness was thicker (P < 0.001) at 500 µm temporal to the foveola (290 ± 67 µm) than in the subfoveal region (283 ± 67 µm; range, 113-507 µm) and the region 500 µm superior to the fovea (283 ± 66 µm), where it was thicker (P < 0.001) than at 500 µm inferior of the foveola (281 ± 66 µm), and it was thinnest (P < 0.001) at 500 µm nasal of the foveola (268 ± 67 µm). In multivariate analysis, thicker SFCT was (overall correlation coefficient r: 0.51) associated with shorter axial length (P < 0.001; standardized correlation coefficient ß: -0.48; B: -23.7; 95% confidence interval [CI]: -27.2 to -20.3), male sex (P = 0.006; ß: -0.08; B: -10.7; 95% CI: -18.3 to -3.11), and younger age (P = 0.04; ß: -0.07; B: -1.46; 95% CI: -2.85 to -0.07). CONCLUSIONS: As in adults, thicker SFCT in children and teenagers was markedly associated with shorter axial length, and to a lesser degree with male sex and older age. As in adults, increasing axial myopia in teenagers is associated with choroidal thinning and development of a leptochoroid.