A novel single-base deletional mutation of MIP impairs protein distribution and cell-to-cell adhesion in autosomal dominant cataracts in a Chinese family.

Congenital cataracts are the leading cause of irreversible visual disability in children, and genetic factors play an important role in their development. In this study, targeted exome sequencing revealed a novel single-base deletional mutation of MIP (c.301delG; p.Ala101Profs*16) segregated with congenital punctate cataract in a Chinese family. The hydrophobic properties, and secondary and tertiary structures for truncated MIP were predicted to affect the function of protein by bioinformatics analysis. When MIP-WT and MIP-Ala101fs expression constructs were singly transfected into HeLa cells, it was found that the mRNA level showed no significant difference, while the protein level of the mutant was remarkably reduced compared to that of the wild-type MIP. Immunofluorescence images showed that the MIP-WT was principally localized to the plasma membrane, whereas the MIP-Ala101fs protein was aberrantly trapped in the cytoplasm. Furthermore, the cell-to-cell adhesion capability and the cell-to-cell communication property were both significantly reduced for MIP-Ala101fs compared to the MIP-WT (all *p < 0.05). This is the first report of the c.301delG mutation in the MIP gene associated with autosomal dominant congenital cataracts. We propose that the cataract is caused by the decreased protein expression and reduced cell-to-cell adhesion by the mutant MIP. The impaired trafficking or instability of the mutant protein, as well as compromised intercellular communication is probably a concurrent result of the mutation. The results expand the genetic and phenotypic spectra of MIP and help to better understand the molecular basis of congenital cataracts.

Interplay of MPP5a with Rab11 synergistically builds epithelial apical polarity and zonula adherens.

Adherens junction remodeling regulated by apical polarity proteins constitutes a major driving force for tissue morphogenesis, although the precise mechanism remains inconclusive. Here, we report that, in zebrafish, the Crumbs complex component MPP5a interacts with small GTPase Rab11 in Golgi to transport cadherin and Crumbs components synergistically to the apical domain, thus establishing apical epithelial polarity and adherens junctions. In contrast, Par complex recruited by MPP5a is incapable of interacting with Rab11 but might assemble cytoskeleton to facilitate cadherin exocytosis. In accordance, dysfunction of MPP5a induces an invasive migration of epithelial cells. This adherens junction remodeling pattern is frequently observed in zebrafish lens epithelial cells and neuroepithelial cells. The data identify an unrecognized MPP5a-Rab11 complex and describe its essential role in guiding apical polarization and zonula adherens formation in epithelial cells.

Non-typical persistent hyperplastic primary vitreous: a rare case report and review of the literature.

BACKGROUND: Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature (PFV), is a clinical entity that traditionally presents with leukocoria, microphthalmia, retinal dysplasia, or eyeball shrinkage which is associated with poor vision. However, there is a dearth of literature on cases of PHPV in adulthood or with asymptomatic occurrence. This report presents the clinical and pathological findings of a non-typical PHPV case and discuss the current knowledge for this condition. CASE PRESENTATION: A 68-year-old healthy male was referred to our outpatient department for evaluation of age-related cataract without other visual symptoms. Preoperative fundus examination occasionally detected an isolated stalk-like band extending to the posterior pole of the eye with normal central vitreous and retina. Other ocular examinations including b-mode ultrasonography, optical coherence tomography did not unveil any abnormalities, which caused diagnostic uncertainty. We referred to cataract surgery along with histopathological study, that revealed characteristics of PHPV including fibrous connective tissues mainly composed of fibrocyte proliferation and a very few capillary vessels. Thereafter, a definitive diagnosis of non-typical PHPV was established. CONCLUSION: Our case is unique due to it was not discovered until adulthood, presence with only age-related cataract, and accompanied with normal central vitreous and retina. Histopathological explorations lead to an accurate diagnosis of the condition. Those results broaden the phenotype spectrums of PHPV and further provide clinical clues for the cognition of the disease.

Is Orthokeratology Treatment Zone Decentration Effective and Safe in Controlling Myopic Progression?

OBJECTIVE: To compare the myopia control efficacy and safety of decentered versus centered positioning of orthokeratology. METHODS: This is a retrospective intrasubject study, including 46 children with myopia (25 boys, 21 girls; age 11.12±0.33 years) treated for 1 year with OK decentration in one eye (group D) and central location in the other (Group C). Axial length was measured before and at 6 months and 12 months after the initial lens wear, respectively. Corneal topography was measured at baseline and at 1-month after lens wear. The corneal topography obtained from the 1-month visit was used to quantify treatment zone decentration (TZD) for each subject. Cycloplegic refraction was required for all children before fitting the orthokeratology lenses. RESULTS: No differences were found between the groups in the biological ocular parameters ( P ≥0.05 for all). The axial elongation in group D and group C differed after 6 and 12 months ( P <0.001 for all). Similar corneal staining rates ( P =0.06) were noted during follow-up in groups D (n=20; 7.24%) and C (n=10; 3.62%), all of grade I. The uncorrected visual acuity (UCVA) in group D and C differed after 1, 6, and 12 months ( P =0.002, 0.010, 0.044), except 3 months ( P =0.146). Group D (n=32; 17.39%) was more likely to have glare or ghosting (chi-squared test, P <0.001) than group C (n=12; 6.52%) during follow-up visits. Axial elongation was significantly associated with baseline spherical equivalent (SE) in group C ( P =0.019). In group D, axial elongation was significantly associated with SE and TZD ( P <0.05 for all). CONCLUSIONS: This intrasubject study showed that when the UCVA was acceptable and there were no apparent complications, orthokeratology decentration may be beneficial in controlling the progression of myopia. Axial elongation became slower in children with a higher SE and a larger TZD, because TZD ranged from 0.5 mm to 1.5 mm.

LED recognition method based on deep learning in UAV optical camera communication.

Optical camera communication (OCC) is a potential technology in unmanned aerial vehicle (UAV) communication scenes, which can be used as a complementary scheme for radio frequency (RF) technology to effectively mitigate electromagnetic interference. The UAV OCC system still has the problems of low reliability, poor robustness, and long latency. In this paper, we propose the n-ary image that contains binary image information with different thresholds for the LED area. In addition, the multi-spectrum fast recognition (MFR) algorithm based on deep learning is designed. The MFR algorithm combines the frequency channel attention (FCA) and the involution convolution operator, which take the n-ary image as input to accurately identify the LED state. The experiment results show that the proposed method can reduce the bit error rate (BER) and latency of the UAV OCC system.

Performance of femtosecond laser-assisted cataract surgery in Chinese patients with cataract: a prospective, multicenter, registry study.

BACKGROUND: This study aimed to investigate the completion rate, visual performance, and adverse outcomes of femtosecond laser-assisted cataract surgery (FLACS) in Chinese patients. METHODS: 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. RESULTS: 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. CONCLUSION: FLACS using the LenSx® laser system can achieve satisfactory results in a real-world setting.

Comparative outcomes of femtosecond laser-assisted cataract surgery and manual phacoemusification: a six-month follow-up.

BACKGROUND: To explore efficacy and safety outcomes in patients undergoing femtosecond laser-assisted cataract surgery (FLACS) versus manual phacoemulsification cataract surgery (PCS). DESIGN: Prospective consecutive nonrandomized comparative cohort study. PARTICIPANTS: A total of 124 eyes from 106 patients (70 in FLACS and 54 in PCS). METHODS: Comparison of FLACS with PCS over 6 months. MAIN OUTCOME MEASURES: Macular central subfield thickness (CST), cube volume (CV), cube average thickness (CAT), endothelial cell density (ECD), central corneal thickness (CCT) and photon count value (PCV). RESULTS: CST, CV and CAT increased postoperatively, which did not return to preoperative levels by 6 months. The values were similar between groups throughout the follow-up, and comparison of changes from baseline also showed no significant difference. Preoperative ECD showed significant difference, which decreased postoperatively and remained stable during follow-up, being lowest at 1 month. FLACS had greater endothelial cell loss than PCS, which was not significant. CCT in both groups increased, reaching maximum on day one and tended to decrease thereafter. No significant differences were found regarding postoperative values and the mean increase. In both groups, mean PCV increased from preoperatively to day one, week one and month one. Flare values in FLACS were lower than PCS, reaching statistical significance at 6 months (P = 0.001). However, the differences in changes of PCV were not significantly different at any visit. CONCLUSIONS: Both FLACS and PCS achieved similar safety and efficacy outcomes for performing cataract surgery. Flare values in eyes with FLACS were lower than those with PCS at 6 months postoperatively.

A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree.

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family.

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.

OBJECTIVE: The goal of this study was to characterize the disease-causing mutations in a Chinese family with congenital nuclear and posterior polar cataracts. METHODS: Clinical data of patients in the family were recorded using slit-lamp photography and high definition video. Genomic DNA samples were extracted from the peripheral blood of the pedigree members and 100 healthy controls. Mutation screening was performed in the candidate genes by bi-directional sequencing of the amplified products. RESULTS: The congenital cataract phenotype of the pedigree was identified by slit-lamp examinations and observation during surgery as nuclear and posterior polar cataracts. Through the sequencing of the candidate genes, a heterozygous c. 418C>T change was detected in the coding region of the γD-crystallin gene (CRYGD). As a result of this change, a highly conserved arginine residue was replaced by a stop codon (p. R140X). This change was discovered among all of the affected individuals with cataracts, but not among the unaffected family members or the 100 ethnically matched controls. CONCLUSIONS: This study identified a novel congenital nuclear and posterior polar cataract phenotype caused by the recurrent mutation p. R140X in CRYGD.

Novel ATF6 homozygous variant in a Chinese patient with achromatopsia.

BACKGROUND: ATF6-associated Achromatopsia (ACHM) is a rare autosomal recessive disorder characterized by reduction of visual acuity, photophobia, nystagmus, and poor color vision. METHODS: Detailed ophthalmological examinations were performed in a Chinese patient with ACHM. Whole exome sequencing and Sanger sequencing were performed to detect the disease-causing gene in the patient. RESULTS: A 6-year-old girl presented photophobia, low vision and reduced color discrimination. Small yellow lesion in the macula of both eyes was observed. FAF demonstrated hypofluorescence in the macular fovea. OCT images revealed interruption of ellipsoid and interdigitation zone in the foveal area and a loss of the foveal pit. ERG showed relatively normal rod responses and unrecordable cone responses. Sequencing result identified a novel splicing variant c.354 + 6T>C in the ATF6 gene (NM_007348.4). CONCLUSIONS: We reported detailed clinical features and genetic analysis of a new Chinese ATF6-associated patient with ACHM.

A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.

PURPOSE: To characterize the disease-causing mutations in four generations of a Chinese family affected with bilateral congenital nuclear and zonular pulverulent cataract. METHODS: Detailed family history and clinical data were recorded. The phenotype was documented using slit-lamp photography. Candidate genes were amplified using PCR and screened for mutations using bidirectional sequencing. RESULTS: Affected individuals had nuclear and zonular pulverulent cataract with Y-sutural opacities. Sequencing of the candidate genes revealed a heterozygous c. 139G>C change in the coding sequence of the connexin 50 gene (gap junction protein, alpha 8 [GJA8]), which results in the substitution of a wild-type aspartic acid with a histidine (D47H). This mutation cosegregated with all affected individuals in the family and was not found in unaffected family members or in 100 unrelated controls. CONCLUSIONS: Our study has identified a novel connexin 50 gene (GJA8) mutation, resulting in the amino substitution p. D47H in a Chinese family with nuclear and zonular pulverulent congenital cataracts. This mutation is probably the causative lesion for the observed phenotype in this family.

Bromfenac sodium 0.1%, fluorometholone 0.1% and dexamethasone 0.1% for control of ocular inflammation and prevention of cystoid macular edema after phacoemulsification.

PURPOSE: To compare bromfenac sodium 0.1%, fluorometholone 0.1% and dexamethasone 0.1% for the control of postoperative inflammation and prevention of cystoid macular edema (CME) after phacoemulsification. METHODS: Patients were randomized to receive bromfenac sodium 0.1% for 1 month (OBS1) or 2 months (OBS2), or fluorometholone 0.1% for 1 month (OFM) or dexamethasone 0.1% for 1 month (ODM). Best-corrected visual acuity, intraocular pressure, endothelial cell density, photon count value and retinal foveal thickness were measured. RESULTS: Mean photon count values were lower in the OBS1 and OBS2 groups compared with the ODM group during the first week. Bromfenac sodium cleared the ocular inflammation more rapidly than fluorometholone and dexamethasone. The foveal thickness was thinner in the second month and the incidence of CME was lower in the OBS1 and OBS2 groups compared with the OFM and ODM groups. CONCLUSION: Bromfenac sodium was more effective and safer than fluorometholone and dexamethasone as an anti-inflammatory, decreasing macular thickness and preventing CME in age-related cataract patients after cataract surgery.

[Recent advances in femtosecond laser-assisted cataract surgery].

As the leading cause of blindness, the type of surgery performed to remove cataracts has evolved from Intracapsular to Extracapsular and to phacoemulsification. Advantages of femtosecond laser include high instantaneous power, strong penetration, short pulse-duration and micro-precision present superior accuracy, predictability and safety to cataract surgery, while also minimizing injury to surrounding ocular tissue. It mainly assists in the procedures of anterior capsulotomy, lens fragmentation, clear corneal incision and limbal relaxing incision creation. However, compared to conventional phacoemulsification, problems such as the minimization of complications and difficulties in conducting peer-reviewed studies with a longer follow-up period and large sample, as well as coverage of added costs remain untracked.The purpose of this review is to outline the advantages and disadvantages as well as clinical value of this evolving technology compared to conventional phacoemulsification.

Expert teacher based on foundation image segmentation model for object detection in aerial images.

Despite the remarkable progress of general object detection, the lack of labeled aerial images limits the robustness and generalization of the detector. Teacher-student learning is a feasible solution on natural image domain, but few works focus on unlabeled aerial images. Inspired by foundation models with the powerful generalization in computer vision field, we propose an expert teacher framework based on foundation image segmentation model called ET-FSM. Our approach provides the performance gains for the student detector by generating high-quality pseudo-labels for unlabeled aerial images. In the ET-FSM, we design the binary detector with expert guidance mechanism to sufficiently leverage the extra knowledge obtained from the foundation image segmentation model, which accurately detects object positions in the complex backgrounds. Also, we present the momentum contrast classification module to distinguish confused object categories in aerial images. To demonstrate the effectiveness of the proposed method, we construct an unlabeled aerial image dataset covering various scenes. The experiments are conducted on diverse types of student detectors. The results show that the proposed approach achieves superior performance compared to existing methods, and allows the student detector to achieve fully supervised performance with much less labeled aerial images. Our dataset and code are available at https://github.com/cq100/ET-FSM .

Comparative visual outcomes of EDOF intraocular lens with FLACS vs conventional phacoemulsification.

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.

Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYßA3/A1.

PURPOSE: To identify the underlying genetic defect in four generations of a Chinese family affected with bilateral congenital polymorphic cataracts. METHODS: Family history and clinical data were recorded. The phenotype was documented using slit-lamp photography. Genomic DNA samples were extracted from peripheral blood of family members. Candidate genes were amplified using polymerase chain reaction (PCR) and screened for mutations on both strands using bidirectional sequencing. RESULTS: Affected individuals exhibited variable opacities in the embryonic nucleus, sutures, and peripheral cortical opacities. The phenotype for this family was identified as polymorphic. Direct sequencing revealed a splice site mutation (c.215+1G>A) at the first base of intron 3 of the crystallin beta A3/A1 (CRYBA3/A1) gene. This mutation co-segregated with all affected individuals in the family and was not found in unaffected family members or in 100 unrelated controls. CONCLUSIONS: Our results identified a recurrent c.215+1G>A mutation in CRYBA3/A1 in a polymorphic congenital cataract family, summarized the variable phenotypes among the patients, which expanded the phenotypic spectrum of congenital cataract in a different ethnic background, and suggested a mechanism that influences cataractogenesis.

Gallium-Based Nanoplatform for Combating Multidrug-Resistant Pseudomonas aeruginosa and Postoperative Inflammation in Endophthalmitis Secondary to Cataract Surgery.

Postcataract endophthalmitis (PCE), a devastating complication following cataract surgeries, is one of the most crucial diseases causing irreversible eye blindness. Pseudomonas aeruginosa (PA), a multiple-drug-resistance (MDR) pathogen, always leads to uncontrolled infection and severe inflammation in PCE that can be difficult to treat by antibiotics. Therefore, it is urgent to develop new feasible strategies composed of both antibacterial and anti-inflammatory capabilities. Here, we report a multifunctional non-antibiotic nanoplatform (Ga-mSiO2-BFN) comprised of clinically approved gallium, mesoporous silica, and bromfenac (BFN) as a co-modified release system to simultaneously eradicate MDR-PA infection and cure inflammation for PCE. The released gallium ions can disrupt bacterial iron metabolism. Meanwhile, the simultaneously released BFN can suppresses the inflammation both postoperation and postinfection of PCE. In the PCE rabbit model, the slit-lamp dispersion and retro-illumination micrograph, ophthalmic clinical grading, and etiological histopathology analysis demonstrated that Ga-mSiO2-BFN could eradicate the MDR infection and alleviate the secondary inflammation from MDR-PA infection. Moreover, both cellular biocompatibility and in vivo animal model application verified the biocompatibility. A potential antibacterial mechanism implicated in the antibacterial action was demonstrated by comprehensive assays of iron antagonism evolutionary curve, colony autofluorescence, polymerase chain reaction, and electron microscopy, showing a repressing siderophore peptide pyoverdine, pyoverdine synthetase D, and interfering with bacterial DNA synthesis. All composites of our nanoplatform were FDA approved, making the Ga-mSiO2-BFN as a potentially promising therapeutic approach for treating MDR-PA in PCE accompanying satisfactory prognosis and prospects for clinical translations.

Outcomes and Prognostic Factors of Posttraumatic Endophthalmitis: A Three-Year Retrospective Study.

PURPOSE: To describe the clinical features, management, and outcomes of patients with posttraumatic endophthalmitis (PTE) and to determine risk factors for poor visual prognosis. METHODS: We retrospectively reviewed the medical records of 42 consecutive patients presenting with PTE who were treated at our institution between 2017 and 2019. Each patient's data, including demographic characteristics, ocular injury details, surgical records, patient outcomes, and laboratory results, were collected and analyzed. Multivariate analysis was conducted to determine the factors associated with poor visual outcomes. RESULTS: In our series, male (n = 36, 85.7%) and patients below 60 years of age (20-40 years, 23.8%; 40-60 years, 57.14%) comprised most of the total cohort. On presentation, 39 (92.8%) of the 42 PTE patients presented best-corrected visual acuity (BCVA) worse than counting fingers. Pars plana vitrectomy (PPV) was performed in all the patients. 59.5% (n = 25) of the patients' BCVA improved after surgery and 33.3% (n = 14) achieved BCVA of 20/200 or better. The rate of evisceration was 7.1% (n = 3). Of the 42 specimens, the culture was positive in 10 (23.8%) eyes. By univariate analysis, factors including sex, occupation, systemic disease, source of trauma, lens injury, silicone oil tamponade, usage of intravitreal antibiotics, BCVA at presentation, and culture positive for any organism did not affect the final visual outcome. The features associated with poor BCVA (grouped as < 20/200 and ≥ 20/200) included older age (P=0.035), corneal-sclera wound (versus sclera wound) (P=0.047), retained intraocular foreign bodies (IOFBs) (P=0.006), treatment > 3 days (versus < 1 day) (P=0.033), and more times of surgeries (P=0.033). CONCLUSIONS: PTE is a severe complication of penetrating globe injuries associated with irreversible visual loss. Our results highlighted the importance of conducting early therapeutic PPV and IOFB removal to achieve better visual outcomes.

Identification and characterization of six ß-crystallin gene mutations associated with congenital cataract in Chinese families.

BACKGROUND: This study aims to identify the underlying genetic defects of ß-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 ß-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 ß-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.