Background: This study aims to identify the underlying genetic defects of β‐crystallin (CRYB) genes responsible for congenital cataracts in a group of Chinese families.Methods: Detailed family history and clinical data of six Chinese families with autosomal dominant congenital cataracts were recorded. Targeted exome sequencing was applied to detect the underlying genetic defects for the families. Generated variants were confirmed by PCR and sanger sequencing. Afterward, bioinformatic analysis through several computational predictive programs was performed to assess impacts of mutations on protein structure and function.Results: A total of 53 participants (23 affected and 30 unaffected) from six unrelated Chinese families were recruited. Cataract phenotypes covered nuclear, total, posterior polar, pulverulent, snowflake‐like, and zonular. Through targeted exome sequencing, six mutations in four β‐crystallin genes were revealed which included five missense mutations CRYBB1 p.Q70P, CRYBB2 p.E23Q, CRYBB2 p.A49V, CRYBB2 R188C, CRYBA4 p.M14K and one splice mutation CRYBB3 c.75+1 G>A. In silico results predicted pathogenic for all four missense variants except variant CRYBB2‐p.A49V yielded results as tolerant. The CRYBB3 c.75+1 G>A splice site mutation was predicted to be deleterious by leading to a broken splice site, a premature stop codon, and subsequently resulting in a short peptide of 113 amino acids, which may affect protein features.Conclusion: The obtained results expanded mutational and phenotype spectrum of β‐crystallin genes and offer clues for pathogenesis of congenital cataracts. The data also demonstrated that targeted exome sequencing is valuable for providing molecular diagnostic information for congenital cataract patients.

The major intrinsic protein gene (MIP), also known as MIP26 or AQP0, is a member of the water-transporting aquaporin family, which plays a critical role in the maintenance of lifelong lens transparency. To date, several mutations in MIP (OMIM 154050) have been linked to hereditary cataracts in humans. However, more pathogenic mutations remain to be identified. In this study, we describe a four-generation Chinese family with a nonsense mutation in MIP associated with an autosomal dominant congenital cataract (ADCC), thus expanding the mutational spectrum of this gene. A large four-generation Chinese family affected with typical Y-suture cataracts combined with punctuate cortical opacities and 100 ethnically matched controls were recruited. Genomic DNA was extracted from peripheral blood leukocytes to analyze congenital cataract-related candidate genes. Effects of the sequence change on the structure and function of proteins were predicted by bioinformatics analysis. Direct sequencing of MIP in all affected members revealed a heterozygous nucleotide exchange c.337C>T predicting an arginine to a stop codon exchange (p.R113X). The substitution co-segregated well in all the affected individuals in the family and was not found in unaffected members or in the 100 unrelated healthy controls. Bioinformatics analysis predicted that the mutation affects the secondary structure and function of the MIP protein. We identified a novel mutation of MIP (p.R113X) in a Chinese cataract family. This is the first nonsense mutation of MIP identified thus far. This novel mutation is also the first disease-causing mutation located in the loop C domain of MIP. The results add to the list of mutations of the MIP linked to cataracts.

Purpose: To investigate the visual quality after femtosecond laser–assisted cataract surgery (FLACS) and conventional phacoemulsification surgery (CPS) with the implantation of an extended depth-of-focus (EDOF) intraocular lens (IOL) TECNIS Symfony. Setting: Eye Center, the Second Affiliated Hospital of Zhejiang University, Zhejiang, China. Design: Prospective cohort study. Methods: Patients were given the option to choose FLACS or CPS and were implanted with a TECNIS Symfony. Main outcome measures were postoperative examinations that included defocus curves, contrast sensitivity (CS), optic path difference aberrometry scan, anterior segment photography, and questionnaires. Results: 261 patients (261 eyes) were enrolled. The circularity index of FLACS was more precise than that of CPS (P = .001). FLACS demonstrated a significantly lower IOL decentration (P = .011) and IOL tilt (P = .009). FLACS presented a significantly lower total aberration (P < .001), higher-order aberrations (HOAs) (P = .001), coma (P = .001), and spherical aberration (P < .001). With IOL decentration of more than 0.40 mm, total internal aberration (P = .023) and HOAs (P = .045) were significantly deteriorated. As for defocus curve, FLACS was better at −1.00 diopter (P < .01). The FLACS group achieved higher CS at 6 to 18 cycles per degree under glare condition (P < .05). With regard to photic phenomena, the FLACS group received better outcomes (P < .05). Conclusions: With the implantation of an EDOF IOL, FLACS could precisely control the shape and size of the capsulotomy and induce a significantly better-centered IOL, leading to higher visual performance compared with CPS.

This study aimed to investigate the completion rate, visual performance, and adverse outcomes of femtosecond laser-assisted cataract surgery (FLACS) in Chinese patients. This is a prospective, single-arm, multicenter registry study of 19 cataract surgery clinics in China. Chinese patients with cataract who underwent FLACS using the Alcon LenSx® laser system in single eye (n = 1140) or both eyes (n = 201) were enrolled and data were collected between March 2015 and August 2016. Clinical characteristics were recorded before surgery, and on postoperative days 1, 7, and 30. For surgery on both eyes, the second eye was included in the analysis only if it was operated within 30 days after the first eye surgery. The primary outcome was the completion rate of circular anterior capsulotomy. Secondary outcomes for lens fragmentation, corneal incision, and intraocular lens (IOL) implantation included best corrected distance visual acuity (BCDVA) and completion rates. Adverse events (AEs) were recorded. The completion rates of circular anterior capsulotomy, lens fragmentation, corneal incision, and IOL implantation were 98.6% (95% CI: 97.8–99.1%), 99.5% (95% CI: 99.1–99.8%), 97.6% (95% CI: 96.7–98.3%), and 100% (95% CI: 99.8–100%), respectively. BCDVA preoperatively and at postoperative day 30 were 1.134 ± 0.831 logMAR and 0.158 ± 0.291 logMAR, respectively. The proportion of eyes with BCDVA of 20/20 or better was 1.6% at baseline and 41.3% at postoperative day 30. AE incidence was 0.32%, with posterior capsule rupture present in 0.19% of eyes. FLACS using the LenSx® laser system can achieve satisfactory results in a real-world setting.

To evaluate the clinical and optical outcomes after clear corneal incision cataract surgery (CICS) with three different incision sizes (1.8, 2.0 and 3.0 mm). Eyes of 150 patients with age-related cataract scheduled for coaxial cataract surgery were randomized to three groups: 1.8, 2.0, or 3.0 mm CICS. Intraoperative data and postoperative outcomes including surgically induced astigmatism (SIA), the corneal incision thickness, wavefront aberrations and modulation transfer function (MTF) of cornea were obtained. There were no significant differences among the three groups in demographic characteristics and intraoperative outcome. The 1.8 and 2.0 mm microincisions showed more satisfactory clinical outcomes than the 3.0 mm incision. The 1.8 mm incision showed significantly less SIA than the 2.0 mm incision until postoperative 1mo (P0.05). Converting from 3.0 mm CICS to 1.8 or 2.0 mm CICS result in better clinical and optical outcomes. However, when incision is 1.8 mm, the benefits from further reduction in size compared with 2.0 mm are limited. The necessity to reduce the incision size is to be deliberated.

To investigate the molecular defects in a four-generation Chinese pedigree affected with Thiel-Behnke corneal dystrophy (TBCD). And to further study the relationship between genetic mutation and clinical manifestations. Individuals of the pedigree were recruited for extensive ophthalmic examinations. Histological studies of two corneal buttons obtained from lamellar keratoplasty were conducted. Peripheral blood was collected in EDTA for genomic DNA isolation from leukocytes of all affected and unaffected members. All 17 exons of the TGFBI gene were screened for mutations by polymerase chain reaction and direct DNA sequencing. Clinical examinations revealed a typical pattern of honeycomb-like TBCD. Histopathology study demonstrated eosinophilic deposits that were congo-red-positive and did not stain with periodic acid Schiff or Masson’s trichrome. Genetic analysis disclosed a heterozygous p. Arg555Trp mutation resulted from a missense c. 1663C > T nucleotide change in exon 12 of TGFBI gene in all affected members. Morever, a second rare variant in exon 6 of the TGFBI gene (p. Arg257Trp) also cosegregated within this family and has been confirmed to be a single nucleotide polymorphism (SNP) not previously reported. The p. Arg555Trp mutation of the TGFBI gene was associated with TBCD, which revealed a novel phenotype-genotype correlation within the mutational spectrum of phenotypically diverse corneal dystrophies.