Postoperative myopic shift and visual acuity rehabilitation in patients with bilateral congenital cataracts.

Background: This study aimed to explore the postoperative myopic shift and its relationship to visual acuity rehabilitation in patients with bilateral congenital cataracts (CCs). Methods: Bilateral CC patients who underwent cataract extraction and primary intraocular lens implantations before 6 years old were included and divided into five groups according to surgical ages (<2, 2-3, 3-4, 4-5, and 5-6 years). The postoperative myopic shift rates, spherical equivalents (SEs), and the best corrected visual acuity (BCVA) were measured and analyzed. Results: A total of 1,137 refractive measurements from 234 patients were included, with a mean follow-up period of 34 months. The postoperative mean SEs at each follow-up in the five groups were linearly fitted with a mean R2 = 0.93 ± 0.03, which showed a downtrend of SE with age (linear regression). Among patients with a follow-up of 4 years, the mean postoperative myopic shift rate was 0.84, 0.81, 0.68, 0.24, and 0.28 diopters per year (D/y) in the five age groups (from young to old), respectively. The BCVA of those with a surgical age of <2 years at the 4-year visit was 0.26 (LogMAR), and the mean postoperative myopic shift rate was 0.84 D/y. For patients with a surgical age of 2-6 years, a poorer BCVA at the 4-year visit was found in those with higher postoperative myopic shift rates (r = 0.974, p = 0.026, Pearson's correlation test). Conclusion: Performing cataract surgery for patients before 2 years old and decreasing the postoperative myopic shift rates for those with a surgical age of 2-6 years may benefit visual acuity rehabilitation.

Spatial distribution of rare earth elements and their impact factors in an area with a high abundance of regolith-hosted deposits.

Despite the widespread occurrence of regolith-hosted rare earth elements (REEs) across South China, their spatial distribution characteristics in soils and their impact factors remain largely uncertain. This knowledge gap impedes the exploration of regolith-hosted REE deposits and the assessment of the environmental risks associated with REEs. To address this issue, 180 soil samples were collected from Meizhou City, Guangdong Province, a region known for its high abundance of regolith-hosted REEs. Subsequently, the correlations between REE enrichment/fractionation and various factors, i.e., topography, climate conditions, land use, and landform were analysed using the geo-detector method. The results revealed a highly uneven spatial distribution of REEs and their fractionation features with some regions displaying distinct spatial patterns. Elevation was the dominant factor influencing this distribution, and showed strong correlations with the concentrations of REEs, light REEs (LREEs) and heavy REEs (HREEs); the LREE/HREE ratio; and the positive Ce anomaly (δCe). The negative Eu anomaly (δEu) showed a good correlation with rock type. The enrichment and fractionation of REEs indicated a coupling among the abovementioned factors. For REE enrichment, areas with elevations of 138-148 m, precipitation levels of 1553-1574 mm, annual average land surface temperatures of 30.4-30.5 °C, leaf area index values of 22-29 and surface cutting degree of 21.5-29.9 m showed the highest average abundance within each type (scope) of the predominant factors. These findings highlight the key factors affecting REE distribution, thereby aiding the efficient utilization of regolith-hosted REE resources and the evaluation of their environmental risks.

Surgical approach to and morphology of visually significant persistent pupillary membranes.

PURPOSE: To characterize the morphology of persistent pupillary membranes (PPMs) in pediatric patients and explore the corresponding surgical approaches. SETTING: Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China. DESIGN: Prospective observational study. METHODS: Consecutive pediatric patients with PPMs who underwent surgery from April 2020 to July 2022 were included. PPM morphology was assessed and categorized according to its anatomic relationship with crystalline lens and distribution of iris strands. The surgical approaches for different morphologies of PPMs were described in detail. The visual outcome and operation-related complications were recorded. RESULTS: 31 eyes from 19 patients were included with the mean age of 7.2 years. 3 morphological variants of PPMs were observed: type I (51.6%, 16/31), a spider-like appearance and no adhesion to the anterior lens capsule (ALC); type II (38.7%, 12/31), a loose central adherence to the ALC and partially thick iris strands attached to the iris collarette; type III (9.7%, 3/31), a tight central adherence to the ALC and only silk-like iris strands. Surgeries were performed with a natural pupil size in type I, while dilated pupil in the other types. The adhesions between PPM and the ALC were separated by viscoelastic injection in type II and by discission needles in type III. The corrected distance visual acuity was significantly improved from 0.34 ± 0.18 logMAR preoperatively to 0.17 ± 0.09 logMAR postoperatively ( P < .001). No operation-related complications were observed during 9.5-month follow-up. CONCLUSIONS: PPMs were categorized into 3 types according to their different morphologies, which helped to determine the best surgical strategy.

Early Diagnosis of Syndromic Congenital Cataracts in a Large Cohort of Congenital Cataracts.

PURPOSE: To explore the factors related to the diagnosis yield of syndromic congenital cataracts and describe the phenotype-genotype correlation in congenital cataract patients. DESIGN: Prospective cohort study. METHODS: Setting: the participants from underwent clinical examinations between 2021 and 2022. Facial and anterior eye segment photographs, pre- and postoperative ocular parameters, and medical and family histories were recorded. Bioinformatics analysis was performed using whole-exome sequencing data. Statistical and correlation analyses were performed using the basic characteristics, deep phenotype, and genotype data. PARTICIPANTS: 115 patients with unrelated congenital cataract. INTERVENTIONS: performing clinical examinations, whole-exome sequencing, and bioinformatics analysis for all participants. MAIN OUTCOMES AND MEASURES: factors related to the genetic diagnosis yield of syndromic congenital cataracts. RESULTS: Bilaterally asymmetrical cataracts were identified to be associated with syndromic congenital cataracts. The overall genetic diagnostic yield in the cohort was 72.2%. In total, 34.8% of the probands were early diagnosed with various syndromes with the help of genetic information. A phenotype-genotype correlation was detected for some genes and deep phenotypes. CONCLUSIONS: We highlight the importance of screening syndromic diseases in the patients with asymmetrical congenital cataracts. Application of whole-exome sequencing helps provide early diagnosis and treatment for the patients with syndromic congenital cataracts. This study also achieved a high genetic diagnostic yield, expanded the genotypic spectrum, and found phenotype-genotype correlations. A comprehensive analysis of cataract symmetricity, family history, and deep phenotypes makes the genotype prediction of some congenital cataract patients possible.

Incidence of and risk factors for suspected and definitive glaucoma after bilateral congenital cataract surgery: a 5-year follow-up.

AIMS: To report the incidence and associated risk factors for developing suspected and definitive glaucoma after bilateral congenital cataract (CC) removal with a 5-year follow-up. METHODS: Secondary analysis of a prospective longitudinal cohort study. Bilateral CC patients who had undergone cataract surgery between January 2011 and December 2014 at Zhongshan Ophthalmic Centre were recruited. Suspected glaucoma was defined as persistent ocular hypertension requiring medical treatment. Definitive glaucoma was defined as accompanied by the progression of glaucomatous clinical features. According to postoperative lens status in 5 years follow-up: 130 eyes in the aphakia group; 219 in the primary intraocular lens (IOL) implantation group and 337 in the secondary IOL implantation group. The Kaplan-Meier survival and Cox regression analyses were used to explore the cumulative incidence and risk factors for suspected and definitive glaucoma. RESULTS: Three hundred fifty-one children (686 eyes) with bilateral CCs were enrolled in the study. The mean age at surgery was 1.82±2.08 years, and the mean follow-up duration was 6.26±0.97 years. Suspected and definitive glaucoma developed at a mean time of 2.84±1.75 years (range 0.02-7.33 years) postoperatively. The cumulative incidence of suspected and definitive glaucoma was 9.97% (35 of 351 patients), including 6.12% (42 eyes) for definitive glaucoma and 2.48% (17 eyes) for suspected glaucoma. Microcornea (HR 4.103, p<0.0001), CC family history (HR 3.285, p=0.001) and initial anterior vitrectomy (HR 2.365 p=0.036) were risk factors for suspected and definitive glaucoma. Gender, age at surgery, intraocular surgery frequency, length of follow-up and frequency of neodymium-doped yttrium aluminumaluminium garnet laser were non-statistically significant. Primary IOL implantation was a protective factor (HR 0.378, p=0.007). CONCLUSIONS: Identifying suspected and definitive glaucoma after bilateral CC surgery can lower the risk of secondary blindness in children. Patients with related risk factors need to pay more attention and thus reach early intervention and treatment during clinical practice. Primary IOL implantation may be a potential protective factor, need more clinical trials to be verified. TRIAL REGISTRATION NUMBER: NCT04342052.

Reopening the capsular bag by removing the capsular proliferative membrane to enable secondary in-the-bag intraocular lens implantation in pediatric aphakic eyes.

PURPOSE: To present a surgical technique for reopening the capsular bag in pediatric aphakia. SETTING: Zhongshan Ophthalmic Center, Guangzhou, China. DESIGN: Case series study. METHODS: Consecutive pediatric patients with bilateral aphakia requiring secondary intraocular lens (IOL) implantation between July 2021 and June 2022 were included. The diameter of the capsular proliferative membranous ring (PMR) and position of IOL implantation were documented. Various parameters of capsular bag opening during primary cataract removal and secondary surgery were also analyzed. RESULTS: 48 eyes were included with a mean follow-up of 8.1 ± 4.4 months. Using the surgical technique developed in this study, the capsular bag was successfully reopened with in-the-bag (ITB) implantation in 43 eyes (89.6%). ITB implantation was accomplished in all eyes with an outer diameter of PMR ≤5.5 mm and in 3 of 8 eyes (37.5%) with an outer diameter of PMR >5.5 mm. A positive correlation was observed between the primary and secondary anterior capsular opening diameters (ACODs) ( r = 0.422, P = .007) and the primary and secondary posterior capsular opening diameters (PCODs) ( r = 0.619, P < .001). The inner diameter of PMR was found to be positively correlated with secondary PCOD ( r = 0.728, P < .001) and the outer diameter with secondary ACOD ( r = 0.669, P < .001). CONCLUSIONS: This was a safe and effective surgical technique for pediatric secondary IOL implantation with maximum preservation of the peripheral capsule. Aphakic eyes with an outer diameter of PMR ≤5.5 mm are preferred for secondary ITB implantation.

Transient vacuolar changes of the crystalline lens in patients using a dispersive ophthalmic viscosurgical device.

AIM: To report the clinical prognosis and pathological findings of accidental lens vacuolar changes in eyes with intraoperative exposure to a dispersive ophthalmic viscosurgical device (OVD). METHODS: Two patients who developed transient lens vacuolar changes during uneventful persistent pupillary membrane (PPM) removal surgery were presented and followed up. This event was speculated to be associated with an intraoperative dispersive OVD DisCoVisc (hyaluronic acid 1.6%-chondroitin sulfate 4.0%) exposure. Then, to provide the pathological basis for our speculation, another four cataract patients were randomly exposed to different OVDs, and their anterior lens capsules were investigated with transmission electron microscopy (TEM). RESULTS: After months, the subcapsular vacuoles in both PPM cases were gradually disappeared without visual deterioration. For the cataract patients, similar lens changes were observed intraoperatively in those exposed to a dispersive DisCoVisc but not a cohesive OVD IVIZ (sodium hyaluronate gel 1.0%). In addition, marked ultrastructural changes, including chromatin condensation, extensive cytoplasmic vacuoles, and obvious intercellular space between lens epithelial cells in the anterior lens capsules of all eyes exposed to DisCoVisc, were observed by TEM. CONCLUSION: The lens vacuolar changes may be associated with a dispersive OVD exposure. Therefore, it is not preferable to use dispersive OVDs in patients with transparent lenses or without the intention of lens extraction. In addition, close follow-ups instead of immediate lens extraction are recommended for the occurrence of similar lens lesions.

Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients.

BACKGROUND: Cranio-lenticulo-sutural dysplasia (CLSD) is a rare dysmorphic syndrome characterized by skeletal dysmorphism, late-closing fontanels, and cataracts. CLSD is caused by mutations in the SEC23A gene (OMIM# 607812) and can be inherited in either an autosomal dominant or autosomal recessive pattern. To date, only four mutations have been reported to cause CLSD. This study aims to identify the disease-causing variants in a large cohort of congenital cataract patients, to expand the genotypic and phenotypic spectrum of CLSD, and to confirm the association between SEC23A and autosomal recessive CLSD (ARCLSD). METHODS: We collected detailed medical records and performed comprehensive ocular examinations and whole-exome sequencing (WES) on 115 patients with congenital cataracts. After suspecting that a patient may have CLSD based on the sequencing results, we proceeded to conduct transmission electron microscopy (TEM) on the cultured skin fibroblasts. The clinical validity of the reported gene-disease relationships for the gene and the disease was evaluated using the ClinGen gene curation framework. RESULTS: Two novel compound heterozygous variants (c.710A > C p.Asp237Ala, c.1946T > C p.Leu649Pro) of the SEC23A gene, classified as variant of uncertain significance, were identified in the proband with skeletal, cardiac, ocular, and hearing defects. The observation of typical distended endoplasmic reticulum cisternae further supported the diagnosis of CLSD. Application of the ClinGen gene curation framework confirmed the association between SEC23A and ARCLSD. CONCLUSION: This study expands the genotypic and phenotypic spectrum of CLSD, proposes TEM as a supplemental diagnostic method, and indicates that congenital cataracts are a typical sign of ARCLSD.

Early Visual Deprivation Impairs Functional Development of the Visual Ventral Stream.

Purpose: To probe the dynamic alternations of neural networks in real-time visual processing after visual deprivation (VD) removal. Methods: A prospective cross-sectional study was conducted. Twenty children with a history of early binocular VD caused by congenital cataracts and 20 matched typically developing (TD) children were enrolled. The event-related potential (ERP) data were obtained via high-density electroencephalography. ERP data were analyzed based on three components (P1, N170, and P2), three test conditions (objects, human faces, and Chinese characters), and peak time and region of interest (ROI) chosen on a grand average head map collapsed from the averaged waveform of each group. Source localization and alpha power spectrum density were applied to define the functional pattern of brain areas and evaluate the attention function. Results: The VD group showed significantly lower P1 amplitudes than the TD group under all conditions in peak ROIs, which were situated in the left occipito-temporal region. For both VD and TD groups, there were strong N170 effects in the character and human face conditions in the component's peak ROIs. Furthermore, source mapping indicated that the VD group generally showed significantly lower activation in the visual cortex and ventral stream, whereas the beyond network areas (mostly frontal areas) intensively participated in functional compensation in the VD group. The VD group showed significant poststimulus alpha desynchronization in object recognition. Conclusions: Our research described the mechanisms of visual networks after early binocular VD removal. Our findings may provide a new basis for the poor visual recovery after early binocular VD removal and offer clues for visual recovery strategies.

Early detection of visual impairment in young children using a smartphone-based deep learning system.

Early detection of visual impairment is crucial but is frequently missed in young children, who are capable of only limited cooperation with standard vision tests. Although certain features of visually impaired children, such as facial appearance and ocular movements, can assist ophthalmic practice, applying these features to real-world screening remains challenging. Here, we present a mobile health (mHealth) system, the smartphone-based Apollo Infant Sight (AIS), which identifies visually impaired children with any of 16 ophthalmic disorders by recording and analyzing their gazing behaviors and facial features under visual stimuli. Videos from 3,652 children (≤48 months in age; 54.5% boys) were prospectively collected to develop and validate this system. For detecting visual impairment, AIS achieved an area under the receiver operating curve (AUC) of 0.940 in an internal validation set and an AUC of 0.843 in an external validation set collected in multiple ophthalmology clinics across China. In a further test of AIS for at-home implementation by untrained parents or caregivers using their smartphones, the system was able to adapt to different testing conditions and achieved an AUC of 0.859. This mHealth system has the potential to be used by healthcare professionals, parents and caregivers for identifying young children with visual impairment across a wide range of ophthalmic disorders.

Accuracy of Intraocular Lens Power Calculation in Pediatric Secondary Implantation: In-the-Bag Versus Sulcus Placement.

PURPOSE: To compare the effects of secondary in-the-bag vs ciliary sulcus intraocular lens (IOL) implantation on the accuracy of IOL power calculation in pediatric eyes. DESIGN: Prospective nonrandomized interventional study. METHODS: Pediatric aphakic eyes that underwent either in-the-bag or ciliary sulcus secondary IOL implantation were included. The mean prediction error (PE), mean absolute error (MAE), median absolute error, and percentages of eyes with PE within ±0.25 diopter (D), ±0.50 D, ±0.75 D, and ±1.00 D were calculated and compared using SRK/T formula. RESULTS: One hundred fourteen eyes (38.26%) received in-the-bag IOL implantation and 184 (61.74%) underwent ciliary sulcus IOL implantation. Compared with the sulcus group, the capsular group displayed significantly lower MAE and higher percentage of eyes within ±0.50 D of PE (MAE: 0.90 vs 1.56 D; ±0.50 D: 40.40% vs 14.29%, both P < .001). The eyes receiving in-the-bag IOL implantation (sulcus IOL implantation ß: -1.060, 95% CI: -1.415 to -0.705; P < .001), unilateral (ß: 0.647, 95% CI: 0.144-1.150; P = .012), or with deeper anterior chamber depth (ß: 0.362, 95% CI: 0.068-0.656; P = .016) were prone to maintain hyperopia (PE > 0). To reduce PE, when the predicted capsular IOL power was between 11.50 and 30.00 D, the power of a sulcus-implanted IOL should be reduced by 0.50 to 2.50 D accordingly (the exact amount of reduction is positively related to the predicted power). CONCLUSIONS: In-the-bag implantation yielded smaller PE in pediatric eyes undergoing secondary IOL implantation. Adjustment of IOL power for ciliary sulcus implantation is required to reduce PE, and the amount of adjustment is positively correlated with the IOL power predicted by SRK/T formula.

Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome.

Warburg Micro syndrome (WARBM) is an autosomal recessive neuro-ophthalmologic syndrome characterized by microcephaly, microphthalmia, congenital cataracts, cortical dysplasia, corpus callosum hypoplasia, spasticity, and hypogonadism. WARBM is divided into four subtypes according to the causative genes, of which RAB3GAP1 (OMIM# 602536) accounts for the highest proportion. We collected detailed medical records and performed whole-exome sequencing (WES) for a congenital cataract patient. A novel heterozygous frameshift RAB3GAP1 variant was detected in a boy with a rare ocular phenotype of bilateral membranous cataracts accompanied by a persistent papillary membrane. Further copy number variation (CNV) analysis identified a novel deletion on chromosome 2q21.3 that removed 4 of the 24 exons of RAB3GAP1. The patient was diagnosed with WARBM following genetic testing. The present study expands the genotypic and phenotypic spectrum of WARBM. It suggests applying whole exome sequencing (WES) and CNV analysis for the early diagnosis of syndromic diseases in children with congenital cataracts.

Unusual Presentation in WAGR Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Diseases.

The deletion of chromosome 11p13 involving the WT1 and PAX6 genes has been shown to cause WAGR syndrome (OMIM #194072), a rare genetic disorder that features Wilms' tumor, aniridia, genitourinary anomalies, as well as mental retardation. In this study, we expand the genotypic and phenotypic spectrum of WAGR syndrome by reporting on six patients from six unrelated families with different de novo deletions located on chromosome 11p13. Very rare phenotypes of lens automated absorption and lens thinning were detected in four of the six patients. We assessed the involvement of the ARL14EP gene in patients with and without severe lens abnormalities and found that its deletion may worsen the lens abnormalities in these patients.

Morphological characteristics of the subfoveal choroid and their association with visual acuity in postoperative patients with unilateral congenital cataracts.

Background: We aimed to evaluate the morphological characteristics of the subfoveal choroid and explore the possible association of these characteristics with best-corrected visual acuity (BCVA) in postoperative patients with unilateral congenital cataracts (CCs). Methods: This was a cross-sectional study. Subfoveal choroidal structures were measured by spectral-domain optical coherence tomography with enhanced depth imaging (EDI-OCT). Several choroidal parameters, including subfoveal choroidal thickness (SFCT), total choroidal area (TCA), luminal area (LA), stromal area (SA) and choroidal vascularity index (CVI), were compared between pseudophakic and contralateral healthy eyes. Then, the choroidal parameters were compared between pseudophakic eyes with a poor BCVA (>0.3 logMAR) and those with a good BCVA (≤0.3 logMAR). The performance of the choroidal parameters in detecting a poor BCVA in pseudophakic eyes was evaluated by using the area under the receiver operating characteristic curve (AUC). A logistic regression model was used to assess the association between choroidal parameters and BCVA in postoperative patients with unilateral CCs. Results: A total of 55 postoperative patients with unilateral CCs were included. The age was 6.67±2.64 years. Thinner SFCT and smaller TCA, LA, SA and CVI were observed in pseudophakic eyes than in contralateral healthy eyes. In addition, in pseudophakic eyes, those with a poor BCVA had a thinner SFCT and a smaller TCA, LA and SA than those with a good BCVA. TCA [AUC, 0.75; 95% confidence interval (CI), 0.62, 0.88], LA (AUC, 0.74; 0.61, 0.87) and SA (AUC, 0.74; 0.60, 0.87) showed acceptable discriminatory abilities on BCVA. Pseudophakic eyes with TCA ≤0.594 mm² [odds ratio (OR), 8.90; 95% CI: 1.99, 39.94; P=0.004], LA ≤0.402 mm² (OR 8.90; 95% CI: 1.99, 39.94; P=0.004) or SA ≤0.218 mm (OR, 6.53; 95% CI: 1.69, 25.27; P=0.007) were more likely to have a poor visual acuity. Conclusions: The pseudophakic eyes in patients with unilateral CCs had thinner SFCT and smaller TCA, LA, SA and CVI than the contralateral healthy eyes. In pseudophakic eyes, smaller TCA, LA and SA values were associated with a poor visual acuity.

Visual Function in Children With Posterior Lens Opacities Before and After Surgery.

PURPOSE: To evaluate the visual function before and after cataract surgery in children with congenital posterior lens opacities as well as the factors associated with a good visual outcome. DESIGN: Perspective case-series study. METHODS: Pediatric patients with posterior lens opacities who underwent cataract surgery were recruited in this study. The cataract type, location, area of opacities, and strabismus were examined perioperatively. Moreover, visual acuity, modulation transfer function (MTF), ocular aberrations, and stereopsis were measured before and after cataract surgery. RESULTS: Sixty-nine eyes of 63 patients were studied. The mean age of patients at surgery was 6.5 ± 2.9 years. Visual function including corrected distance visual acuity (CDVA), MTF cutoff frequency, and ocular aberrations were significantly affected in eyes with posterior lens opacities. Postoperatively, CDVA was significantly improved from 0.81 ± 0.53 logMAR to 0.40 ± 0.40 logarithm of the minimum angle of resolution (logMAR) (P < .001). Thirty-nine patients (56.5%) achieved a final VA of 20/40 or better. Moreover, MTF cutoff values were significantly improved, and total ocular aberrations were decreased after cataract removal (both P < .001). The stereopsis was also improved postoperatively (P < .001). The multivariate analysis of the risk factors for postoperative CDVA showed that worse preoperative CDVA, larger size of lens opacities, and mean keratometry were the risk factors (all P < .05). CONCLUSIONS: Visual function can be significantly decreased in children with posterior lens opacities, and surgery was effective in improving visual function. Patients with a CDVA of 0.52 logMAR or better, a size of lens opacity <6.5 mm2 and smaller mean keratometry had a greater CDVA postoperatively.

Ocular development in children with unilateral congenital cataract and persistent fetal vasculature.

AIM: To investigate the ocular development of patients who had unilateral congenital cataract (CC) combined with persistent fetal vasculature (PFV). METHODS: This cross-sectional, observational study included patients who had unilateral CC and PFV and those with isolated unilateral CC. Axial length (AL), keratometry, anterior chamber depth (ACD), lens thickness, and vitreous length were obtained. The ocular biometric parameters of the affected eyes of patients with CC and PFV were compared with the fellow eyes and with the affected eyes of patients with isolated CC. RESULTS: A total of 110 patients were included and divided into 4 groups: group 1 (18 patients with CC and PFV, <24mo), group 2 (22 patients with CC and PFV, ≥24mo), group 3 (35 patients with CC, <24mo), and group 4 (35 patients with CC, ≥24mo). The ALs of the affected eyes were shorter than those of the fellow eyes in group 1 (20.02±1.06 vs 20.66±0.63 mm, P=0.025). While the ALs of the affected eyes were longer than those of the fellow eyes in group 2 (23.18±2.00 vs 22.31±1.06 mm, P=0.044) and group 4 (22.64±1.80 vs 22.02±1.01 mm, P=0.033). The keratometries of the affected eyes were steeper than those of the fellow eyes in group 2 (44.78±1.66 vs 43.83±1.38 D, P=0.041) and group 4 (43.76±1.91 vs 43.34±1.46 D, P=0.043). No difference of ACDs between two eyes was found in all groups (all P>0.05). CONCLUSION: Compared with the fellow eyes, the ALs of the eyes with unilateral CC and PFV are shorter in patients younger than 24mo and longer in those older than 24mo; the keratometries of the eyes with unilateral CC and PFV are steeper in patients older than 24mo and similar with those younger than 24mo. These findings provide further understanding of ocular development in patients with both CC and PFV.

Intraoperative OCT for the assessment of posterior capsular integrity in pediatric cataract surgery.

PURPOSE: To study the morphology of the posterior lens cortex and posterior capsules (PCs) in pediatric patients with posterior lens opacities using intraoperative optical coherence tomography (iOCT). SETTING: Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China. DESIGN: Prospective observational study. METHODS: Pediatric patients with posterior lens opacities were imaged using iOCT during cataract surgery. The morphology of the posterior lens cortex and PC, along with the common patterns to indicate PC integrity, was assessed. Moreover, PC rent during surgery was observed. RESULTS: A total of 62 eyes from 53 patients were included. The mean age of patients was 3.8 years. 4 morphological variants of posterior lens opacity were observed: type I (34/62 [54.8%]) with an intact PC; type II (20/62 [32.3%]) with an intact PC, which protruded into the anterior vitreous; type III (3/62 [4.8%]) with a deficient PC and an inability to delineate the PC; and type IV (5/62 [8.1%]) with dense opacity and an inability to characterize the posterior cortex and PC. Phacoemulsification could be performed in types I and II. In types III and IV, manual nucleus removal was performed instead of phacoemulsification. 3 cases (100%) of type III PC dehiscence developed during surgery, whereas no cases developed PC dehiscence of other types. CONCLUSIONS: The morphology of the PC and posterior lens cortex in pediatric posterior lens opacities could be categorized, and PC integrity could be assessed using iOCT, which was useful to guide surgical strategies and increase safety in pre-existing PC dehiscence in pediatric cataract surgery.

Broadening the Mutation Spectrum in GJA8 and CHMP4B: Novel Missense Variants and the Associated Phenotypes in Six Chinese Han Congenital Cataracts Families.

Purpose: To broaden the mutation and phenotype spectrum of the GJA8 and CHMP4B genes and to reveal genotype-phenotype correlations in a cohort of Chinese patients with congenital cataracts (CCs). Methods: Six Chinese Han families with CCs inherited in an autosomal dominant (AD) pattern were recruited for this study. All patients underwent full ocular examinations. Genomic DNA was extracted from the leukocytes of peripheral blood collected from all available patients and their unaffected family members. Whole-exome sequencing (WES) was performed on all probands and at least one of their parents. Candidate variants were further confirmed by Sanger sequencing. Bioinformatic analysis with several computational predictive programs was performed to assess the impacts of the candidate variants on the structure and function of the proteins. Results: Four heterozygous candidate variants in three different genes (CRYBB2, GJA8, and CHMP4B) were identified in affected individuals from the six families, including two novel missense variants (GJA8: c.64G > C/p. G22R, and CHMP4B: c.587C > G/p. S196C), one missense mutation (CRYBB2: c.562C > T/p. R188C), and one small deletion (GJA8: c.426_440delGCTGGAGGGGACCCT/p.143_147delLEGTL). The three missense mutations were predicted as deleterious in all four computational prediction programs. In the homologous model, the GJA8: p.143_147delLEGTL mutation showed a sequence deletion of five amino acids at the cytoplasmic loop of the Cx50 protein, close to the third transmembrane domain. Patients carrying mutations in the same gene showed similar cataract phenotypes at a young age, including total cataracts, Y-sutural with fetal nuclear cataracts, and subcapsular cataracts. Conclusion: This study further expands the mutation spectrum and genotype-phenotype correlation of CRYBB2, GJA8, and CHMP4B underlying CCs. This study sheds light on the importance of comparing congenital cataract phenotypes in patients at the same age stage. It offers clues for the pathogenesis of CCs and allows for an early prenatal diagnosis for families carrying these genetic variants.

Application of Surgical Decision Model for Patients With Childhood Cataract: A Study Based on Real World Data.

Reliable validated methods are necessary to verify the performance of diagnosis and therapy-assisted models in clinical practice. However, some validated results have research bias and may not reflect the results of real-world application. In addition, the conduct of clinical trials has executive risks for the indeterminate effectiveness of models and it is challenging to finish validated clinical trials of rare diseases. Real world data (RWD) can probably solve this problem. In our study, we collected RWD from 251 patients with a rare disease, childhood cataract (CC) and conducted a retrospective study to validate the CC surgical decision model. The consistency of the real surgical type and recommended surgical type was 94.16%. In the cataract extraction (CE) group, the model recommended the same surgical type for 84.48% of eyes, but the model advised conducting cataract extraction and primary intraocular lens implantation (CE + IOL) surgery in 15.52% of eyes, which was different from the real-world choices. In the CE + IOL group, the model recommended the same surgical type for 100% of eyes. The real-recommended matched rates were 94.22% in the eyes of bilateral patients and 90.38% in the eyes of unilateral patients. Our study is the first to apply RWD to complete a retrospective study evaluating a clinical model, and the results indicate the availability and feasibility of applying RWD in model validation and serve guidance for intelligent model evaluation for rare diseases.

Improving the Generalizability of Infantile Cataracts Detection via Deep Learning-Based Lens Partition Strategy and Multicenter Datasets.

Infantile cataract is the main cause of infant blindness worldwide. Although previous studies developed artificial intelligence (AI) diagnostic systems for detecting infantile cataracts in a single center, its generalizability is not ideal because of the complicated noises and heterogeneity of multicenter slit-lamp images, which impedes the application of these AI systems in real-world clinics. In this study, we developed two lens partition strategies (LPSs) based on deep learning Faster R-CNN and Hough transform for improving the generalizability of infantile cataracts detection. A total of 1,643 multicenter slit-lamp images collected from five ophthalmic clinics were used to evaluate the performance of LPSs. The generalizability of Faster R-CNN for screening and grading was explored by sequentially adding multicenter images to the training dataset. For the normal and abnormal lenses partition, the Faster R-CNN achieved the average intersection over union of 0.9419 and 0.9107, respectively, and their average precisions are both > 95%. Compared with the Hough transform, the accuracy, specificity, and sensitivity of Faster R-CNN for opacity area grading were improved by 5.31, 8.09, and 3.29%, respectively. Similar improvements were presented on the other grading of opacity density and location. The minimal training sample size required by Faster R-CNN is determined on multicenter slit-lamp images. Furthermore, the Faster R-CNN achieved real-time lens partition with only 0.25 s for a single image, whereas the Hough transform needs 34.46 s. Finally, using Grad-Cam and t-SNE techniques, the most relevant lesion regions were highlighted in heatmaps, and the high-level features were discriminated. This study provides an effective LPS for improving the generalizability of infantile cataracts detection. This system has the potential to be applied to multicenter slit-lamp images.