BACKGROUND:Congenital cataracts (CC) are one of the leading causes of impaired vision or blindness in children, with approximately 8.3-25% being inherited. The aim of this study is to investigate the mutation spectrum and frequency of 9 cataract-associated genes in 19 Chinese families with congenital cataracts. PURPOSE:To identify the gene variants associated with congenital cataracts. METHODS:This study included a total of 58 patients from 19 pedigrees with congenital cataracts. All probands were initially screened by whole-exome sequencing(WES), and then validated by co-segregation analysis using Sanger sequencing. RESULTS:Likely pathogenic variants were detected in 8 families, with a positivity rate of 42.1%. Variants in various genes were identified, including GJA3, CRYGD, CRYBA4, BFSP2, IARS2, CRYAA, CRYBA1, ARL2 and CRYBB3. Importantly, this study identified compound heterozygous variants of IARS2 in one family. CONCLUSIONS:Our research findings have revealed multiple gene variants associated with cataracts, providing clinical guidance for improved molecular diagnosis of congenital cataracts in the era of precision medicine.

Background This study evaluates the impact of corneal power on the accuracy of 14 newer intraocular lens (IOL) calculation formulas in cataract surgery. The aim is to assess how these formulas perform across different corneal curvature ranges, thereby guiding more precise IOL selection. Methods In this retrospective case series, 336 eyes from 336 patients who underwent cataract surgery were studied. The cohort was divided into three groups according to preoperative corneal power. Key metrics analyzed included mean prediction error (PE), standard deviation of PE (SD), mean absolute prediction error (MAE), median absolute error (MedAE), and the percentage of eyes with PE within ± 0.25 D, 0.50 D, ± 0.75 D, ± 1.00 D and ± 2.00 D. Results In the flat K group (Km < 43 D), VRF-G, Emmetropia Verifying Optical Version 2.0 (EVO2.0), Kane, and Hoffer QST demonstrated lower SDs (± 0.373D, ± 0.379D, ± 0.380D, ± 0.418D, respectively) compared to the VRF formula (all P < 0.05). EVO2.0 and K6 showed significantly different SDs compared to Barrett Universal II (BUII) (all P < 0.02). In the medium K group (43 D ≤ Km < 46 D), VRF-G, BUII, Karmona, K6, EVO2.0, Kane, and Pearl-DGS recorded lower MAEs (0.307D to 0.320D) than Olsen (OLCR) and Castrop (all P < 0.03), with RBF3.0 having the second lowest MAE (0.309D), significantly lower than VRF and Olsen (OLCR) (all P < 0.05). In the steep K group (Km ≥ 46D), RBF3.0, K6, and Kane achieved significantly lower MAEs (0.279D, 0.290D, 0.291D, respectively) than Castrop (all P < 0.001). Conclusions The study highlights the varying accuracy of newer IOL formulas based on corneal power. VRF-G, EVO2.0, Kane, K6, and Hoffer QST are highly accurate for flat corneas, while VRF-G, RBF3.0, BUII, Karmona, K6, EVO2.0, Kane, and Pearl-DGS are recommended for medium K corneas. In steep corneas, RBF3.0, K6, and Kane show superior performance.

Abstract Background Congenital cataracts (CC) are one of the leading causes of impaired vision or blindness in children, of which approximately 8.3–25% are inherited. More than 100 cataract-related genes have been identified globally. Purpose To identify the gene variants associated with congenital cataracts. Methods This study included a total of 58 patients from 19 pedigrees with congenital cataracts. All probands were initially screened by whole-exome sequencing(WES), and some pedigrees were validated by co-segregation analysis using Sanger sequencing. Results Pathogenic variants were detected in 10 families, with a positivity rate of 52.6%. Variants in various genes were identified, including GJA3, CRYGD, BFSP2, CRYAA, and CRYBA1. Importantly, this study identified novel variants in CRYBA4, IARS2, ARL2, and CRYBB3. Conclusions Our research findings have revealed multiple gene variant sites associated with cataracts in the 10 families studied, providing clinical guidance for better understanding and management of the disease.

OBJECTIVES:To identify factors associated with progressive anisometropia after bilateral intraocular lens (IOL) implantation in patients with pediatric cataract. METHODS:Clinical and standardized questionnaire data were collected for Sixty-eight patients with pediatric cataract (136 eyes) who underwent bilateral IOL implantation and at least 1 year of follow-up. Univariate and multivariate linear regression models were used to identify factors associated with postoperative anisometropia. RESULTS:The median age at IOL implantation was 3.2 years (range: 1-12.4 years), and median follow-up time was 5.7 years (range: 1.1-14 years). At 1 month postoperatively and at the last follow-up, there were 19 (27%) and 31 (46%) cases of anisometropia ≥1 D, 9 (13%) and 15 (22%) cases of anisometropia ≥2 D, and 2 (3%) and 9 (13%) cases of anisometropia ≥3 D, respectively. Compared with 1 month postoperatively, the amount of anisometropia increased in 45 (67%) patients. Greater anisometropia one year or more after bilateral IOL implantation was associated with larger intereye difference in IOL power (P = 0.032, 95%CI 0.013 to 0.285), intereye difference in preoperative axial length (P = 0.018, 95%CI -1.247 to -0.123), presence of strabismus (P = 0.017, 95%CI 0.063-0.601), anisometropia at 1 month postoperatively (P = 0.001, 95%CI 0.126-0.478), and intereye difference in axial length at the last follow-up (P = 0.047, 95%CI 0.005-0.627). CONCLUSION:Anisometropia might progress after bilateral IOL implantation in patients with pediatric cataract. Greater intereye difference in IOL power, presence of strabismus might increase the potential of progressive anisometropia.