Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations.

PURPOSE: Bilateral pediatric cataract (BPC) is one of the most common causes of childhood visual impairment and blindness worldwide. A significant percentage of pediatric cataracts are caused by genetic alterations. We aim to characterize the set of genes and variants that cause BPC in the Israeli and Palestinian populations and to assess genotype-phenotype correlation. METHODS: Retrospective study in a multidisciplinary center for visual impairment, located in a tertiary medical center. Medical charts of families who underwent genetic counseling because of BPC in a family member were reviewed. Clinical characteristics and genetic tests results were obtained from medical records of affected subjects. RESULTS: Twenty-two families (47 patients) underwent genetic counseling and completed genetic testing. Causative variants were identified in 18/22 (81.8%) of the families, including 3 novel variants. Genetic testing used included mainly panel for congenital cataracts and whole exome sequencing. Eleven families performed genetic testing with the intention of future pregnancy planning. Main causative genes identified were crystalline genes followed by transcription factor genes. BCOR gene variants were associated with persistent fetal vasculature (PFV) cataract in two of three families. CONCLUSIONS: Combined molecular techniques are useful in identifying variants causing pediatric cataracts and showed a high detection rate in our population. BCOR gene variants might be associated with PFV type of cataracts. The study of pathogenic variants may aid in family planning and prevention of pediatric cataracts in future pregnancies. Additionally, in certain cases, it assists in diagnosing non-suspected syndromic types of pediatric cataracts.

Incidence and Risk Factors for Retinal Detachment Following Pediatric Cataract Surgery.

Background: Retinal detachment is a major postsurgical threat in pediatric cataract surgery; however, the effect of axial length remains unclear. This study aimed to assess the relationship between axial length and detachment risk in vulnerable patients. Methods: This retrospective cohort study analyzed 132 eyes of 84 pediatric cataract surgery patients aged <20 years old. Axial length was measured preoperatively, and the incidence of retinal detachment was recorded over a median follow-up of 4 years. Logistic regression analysis was used to examine the axial length-detachment relationship. Results: Twenty eyes had postoperative retinal detachments. The median axial length was longer in the detachment group (23.6 mm) than in the non-detachment group (21.6 mm). Eyes with axial length ≤23.4 mm had 0.55-fold decreased odds of detachment compared to longer eyes. Preexisting myopia and glaucoma confer heightened risk. Approximately half of the patients retained some detachment risk eight years postoperatively. Conclusion: Shorter eyes (axial length ≤23.4 mm) appear to be protected against pediatric retinal detachment after cataract surgery, whereas myopia, glaucoma, and axial elongation > 23.4 mm elevate the postoperative risk. Understanding these anatomical risk profiles requires surgical planning and follow-up care of children undergoing lensectomy.

This study investigated the protective role of a shorter axial length in preventing retinal detachment after pediatric cataract surgery. This highlights the correlation between smaller eye sizes and reduced detachment risk, emphasizing the need for careful consideration of anatomical factors in surgical planning and patient monitoring, particularly for patients with preexisting myopia or postoperative glaucoma.

Observation on the tilt and decentration of multifocal intraocular lens with optic capture in Berger space for pediatric cataract.

PURPOSE: This study aimed to observe the tilt and decentration of multifocal intraocular lens (IOL) with optic capture in Berger space within 2 years after pediatric cataract surgery. METHODS: This is a prospective observational study. The implantation of multifocal IOL (Tecnis ZMB00) with optic capture in Berger space was performed on 33 patients (48 eyes) with pediatric cataract at Qingdao Eye Hospital. Tilt and decentration of IOL was measured using Scheimpflug system (Pentacam) at 1 month and 2 years postoperatively. RESULTS: All the multifocal IOLs were successfully implanted in Berger space with optic capture and no visually significant complications were detected during the follow-up. The mean tilt of IOLs was 2.779° ± 0.950° in the vertical plane and 2.399° ± 0.898° in the horizontal plane at 1 month postoperatively, and the mean length of the decentration was 0.207 ± 0.081 mm in vertical plane and 0.211 ± 0.090 mm in the horizontal plane. Compared with 1 month after surgery, the angle of tilt decreased by a mean of 0.192° and decentration increased by a mean of 0.014 mm at the vertical meridian at 2 years postoperatively (P = 0.37 and P = 0.27, respectively), meanwhile, tilt increased by 0.265° and decentration increased by 0.012 mm at the horizontal meridian (P = 0.11 and P = 0.22, respectively). CONCLUSIONS: The follow-up results suggest the tilt and decentration of multifocal IOL implantation with optic capture in Berger space remain stable in an acceptable range within 2 years after cataract surgery in children above the age of 5. TRIAL REGISTRATION: The study was approved by the Ethics Committee of Qingdao Eye Hospital, and registered on Chinese Clinical Trial Registry (ChiCTR identifier: 1900023155).

Metabolomic profiling of the aqueous humor in patients with pediatric cataract.

Pediatric cataract, including congenital and developmental cataract, is a kind of pediatric vision-threatening disease with extensive phenotypic heterogeneity and multiple mechanisms. We aimed to investigate the metabolite profile of aqueous humor (AH) in patients with pediatric cataracts, and identify underlying mutual correlations between differential metabolites. Metabolomic profiles of AH were analyzed and compared between pediatric cataract patients (n = 33) and age-related cataract patients without metabolic diseases (n = 29), using global untargeted metabolomics with ultra-high-performance liquid chromatography tandem mass spectrometry. Principal component analysis, partial least squares discriminant analysis and heat map were applied. Enriched pathway analysis was conducted using Kyoto Encyclopedia of Genes and Genomes. Receiver-operating characteristic (ROC) analyses were employed to select potential biomarkers. A total of 318 metabolites were identified, of which 54 differential metabolites (25 upregulated and 29 downregulated) were detected in pediatric cataract group compared with controls (variable importance of projection >1.0, fold change ≥1.5 or ≤ 0.667 and P < 0.05). A significant accumulation of N-Acetyl-Dl-glutamic acid was observed in pediatric cataract group. The differential metabolites were mainly enriched in histidine metabolism (increased L-Histidine and decreased 1-Methylhistamine) and the tryptophan metabolism (increased N-Formylkynurenine and L-Kynurenine). 5-Aminosalicylic acid showed strong positive mutual inter-correlation with L-Tyrosinemethylester and N,N-Diethylethanolamine, both of which were down-regulated in pediatric cataract group. The ROC analysis implied 11 metabolites served as potential biomarkers for pediatric cataract patients (all area under the ROC curve ≥0.900). These results illustrated novel potential metabolites and metabolic pathways in pediatric cataract, which provides new insights into the pathophysiology of pediatric cataract.

A simplified sclerocorneal tunnel approach in performing pediatric cataract surgery.

BACKGROUND/AIMS: Performing pediatric lensectomy, anterior vitrectomy with intraocular lens implantation in one session, using a long sclerocorneal tunnel and covering the incision site with 8/0 Vicryl sutures. MATERIALS AND METHODS: This study includes 52 eyes of 30 patients with pediatric cataracts. At the temporal side, the conjunctival peritomy was performed, followed by two long sclerocorneal side ports and the main incision for intraocular lens (IOLs) implantation. At the end of the operation, the side port and the conjunctiva incisions were sutured with 8/0 Vicryl sutures. The IOLs were implanted in children older than 24 months, not in smaller ones. The operations and intraoperative complications were recorded. After the operation, the patients were examined on the 1st postoperative day, then six times for the first 6 months. During follow-ups, the impact of the suture on the anterior segment complications and astigmatism was evaluated. RESULTS: The age of the patients ranged between 2 months and 8 years. The average operation time was 28 ± 6 min. Due to the suture-related complication, neither re-suturing nor stitch removal was carried out; therefore, general anesthesia was not repeated. The average astigmatism value of the children in the postoperative 1st week was 1.5 ± 1.2 D (0.5-4.0). The mean astigmatism value was 0.8 ± 0.5 D (0.5-1.5) in the 3rd postoperative month. CONCLUSION: The long corneoscleral tunnel method has been found safe in pediatric cataract surgery.

Refractive predictive errors using Barrett II, Hoffer-Q, and SRKT formulae for pediatric IOL implantation.

PURPOSE: To compare the accuracy of the Barrett II universal (BU II) formula, Hoffer-Q, and SRKT formulae following lensectomy and IOL implantation in a large pediatric cohort. METHODS: Retrospective study of children who underwent lensectomy and IOL implantation between 2015 and 2023 at Hadassah-Hebrew University Medical Center, Jerusalem, Israel. RESULTS: One hundred and fifty-one eyes of 104 children aged 6.0 ± 3.9 years were included. The mean prediction error (PE) was - 0.08 ± 1.54 diopters (D) with BU II, 0.24 ± 1.46 D with Hoffer-Q, and 0.71 ± 1.92 D with SRKT (P = 0.10). In eyes with axial length (AL) < 22 mm, BU II and Hoffer-Q had a smaller PE than SRKT (P = 0.024). In eyes with AL ≥ 22 mm, BU II had a smaller PE than Hoffer-Q (P = 0.048). In children 24 months or older at surgery, BU II had a smaller PE than SRKT and Hoffer-Q (P = 0.012). However, in younger children, no difference was found between the formulae (P = 0.61). For mean k-values ≥ 44.5 D, BU II and Hoffer-Q had a smaller PE than SRKT (P = 0.002). An absolute prediction error < 1.0 D was obtained with BU II in 66% of eyes and SRKT in 35% (P = 0.01). CONCLUSIONS: The BU II formula performed well with a small prediction error. No significant difference in PE was detected overall between the formulae. However, only BU II demonstrated a stable prediction error at varying axial lengths, K-readings, and ages. As the biometric parameters of the developing eye change with growth, the BU II formula offers a reliable and stable option for pediatric IOL calculation.

Incidence and predisposing factors of intraocular Lens tilt following secondary ciliary sulcus implantation in children: An ultrasound biomicroscopic study.

PURPOSE: To evaluate the incidence and causes of intraocular lens (IOL) tilt and changes in anterior chamber angle after secondary IOL sulcus implantation following congenital cataract removal. METHODS: A retrospective observational study was conducted on children who underwent secondary sulcus IOL implantation following pediatric cataract removal in the period from 2017-2020 in Cairo university Hospitals. Children were examined for IOL position, centration, and tilt. Intraocular pressure (IOP) measurement, fundus and gonioscopic examination was performed. Ultrasound biomicroscopy (UBM) was performed on both eyes in children with clinically detected tilt. RESULTS: Ciliary sulcus secondary IOL implantation was performed in 102 eyes (57 children). IOL tilt was detected clinically in 16 eyes of 14 children (15.7%). UBM showed clinically undetected tilt in the fellow eye in additional 4 eyes. The mean angle of tilt was 12.8 ± 3.9° in clinically detected tilt compared to 7.5 ± 1.2° in UBM detected tilt. Mean anterior chamber depth (ACD) was 2.4 ± 0.5 mm IOP was >21 mmHg in 1.9% of eyes. Narrowing of the anterior chamber angle (ACA) after sulcus implantation occurred in 40% of eyes with open angle. Sulcus proliferations and obliterated sulcus were detected in all 20 eyes. Sommering's ring was found in 7 eyes (35%). Axial length, corneal diameter, and presence of persistent fetal vasculature did not affect IOL position. CONCLUSION: The presence of residual lens matter or an obliterated ciliary sulcus is associated with a higher incidence of IOL malposition following ciliary sulcus implantation.

Risk Factors for Glaucoma Diagnosis and Surgical Intervention following Pediatric Cataract Surgery in the IRIS® Registry.

PURPOSE: To compare demographic and clinical factors associated with glaucoma following cataract surgery (GFCS) and glaucoma surgery rates between infants, toddlers, and older children using a large, ophthalmic registry. DESIGN: Retrospective cohort study. PARTICIPANTS: Patients in the IRIS® Registry (Intelligent Research in Sight) who underwent cataract surgery at ≤ 17 years old and between January 1, 2013 and December 31, 2020. METHODS: Glaucoma diagnosis and procedural codes were extracted from the electronic health records of practices participating in the IRIS Registry. Children with glaucoma diagnosis or surgery before cataract removal were excluded. The Kaplan-Meier estimator was used to determine the cumulative probability of GFCS diagnosis and glaucoma surgery after cataract surgery. Multivariable Cox regression was used to identify factors associated with GFCS and glaucoma surgery. MAIN OUTCOME MEASURES: Cumulative probability of glaucoma diagnosis and surgical intervention within 5 years after cataract surgery. RESULTS: The study included 6658 children (median age, 10.0 years; 46.2% female). The 5-year cumulative probability of GFCS was 7.1% (95% confidence interval [CI], 6.1%-8.1%) and glaucoma surgery was 2.6% (95% CI, 1.9%-3.2%). The 5-year cumulative probability of GFCS for children aged < 1 year was 22.3% (95% CI, 15.7%-28.4%). Risk factors for GFCS included aphakia (hazard ratio [HR], 2.63; 95% CI, 1.96-3.57), unilateral cataract (HR, 1.48; 95% CI, 1.12-1.96), and Black race (HR, 1.61; 95% CI, 1.12-2.32). The most common surgery was glaucoma drainage device insertion (32.6%), followed by angle surgery (23.3%), cyclophotocoagulation (15.1%), and trabeculectomy (5.8%). CONCLUSIONS: Glaucoma following cataract surgery diagnosis in children in the IRIS Registry was associated with young age, aphakia, unilateral cataract, and Black race. Glaucoma drainage device surgery was the preferred surgical treatment, consistent with the World Glaucoma Association 2013 consensus recommendations for GFCS management. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Effects of prolonged waiting time on visual outcomes of patients with pediatric cataract in a Tertiary Public Hospital

Background@#Pediatric cataract is one of the most common preventable cause of childhood blindness worldwide. Early and timely intervention of pediatric cataract is important to maximize the visual outcomes and start prompt visual rehabilitation.@*Objectives@#This study aimed to determine the average time from the day of initial consult at the outpatient clinic to the day of the cataract surgery and compare the effects of delayed surgery on visual outcomes of patients.@*Methods@#This is a retrospective chart review of medical records from January 2015 to June 2022. The dates of the different steps in the process up to the day of intervention were noted and the average interval duration and the total waiting time were determined. Patients operated on within 2 weeks from initial consult was defined as no delay while those operated >2 weeks had delayed surgery. Pre-operative and post-operative best corrected log MAR visual acuity were compared within each group to determine if delay in surgical intervention has a significant effect on the visual outcomes of patients.@*Results@#Median age at initial consult was 4.9 years while median age at surgery was 5.2 years. Ninety-nine (99) patients had developmental cataract and 123 patients had bilateral cataract. Leukocoria was the most common chief complaint (63.45%). Pre-operatively, 94 patients had strabismus, 49 had eye preference, 48 had nystagmus, and 43 had amblyopia in the diagnosis. There was significantly faster admission to cataract surgery during the pandemic compared to pre-pandemic period but there was no difference in the total waiting time. Patients with congenital cataract had the least total waiting time followed by developmental, and rubella cataract. There is no significant difference in visual outcomes between patients operated without delay and with delay.@*Conclusion@#There is delayed age at diagnosis and surgery of pediatric cataract patients in the Philippine General Hospital. Early surgery did not reflect better visual outcomes compared to delayed surgery probably due to delay in consultation of patients.

Pediatric Cataract: Disparately Blinding Globally and in the United States.

Childhood cataract is a complex condition requiring longitudinal care, including early diagnosis, timely referral to a specialist, early surgical intervention, and dedicated postoperative care. Adherence to refractive correction and amblyopia therapy are critical for visual rehabilitation, even months to years after the cataract is removed. We review the impact of the social determinants of health on each step in the visual rehabilitation pathway for children with congenital and infantile cataracts. Children from socioeconomically marginalized backgrounds are more likely to experience delays in access to care and utilization of surgical services. They are also less likely to adhere to amblyopia therapy, with corresponding decrements in visual outcomes. Additional sociocultural factors, including parental stress, self-efficacy, and health literacy, pose barriers for these children. Standardizing clinical roles, improving health communication, managing parental stress, and implementing systemic policy changes may alleviate socioeconomic disparities in outcomes for children with cataracts.

Role of Intraocular Lens Implantation in Children.

PURPOSE: To summarize recent literature and provide an update on the role of intraocular lens implantation in children. DESIGN: AOC/AACO/AAO 2022 Symposium Summary. INTERVENTION: None. RESULTS: Literature review surrounding the use of intraocular lenses in children. Attention was given to multicenter study efforts including the Infant Aphakia Treatment Study, the Toddler Aphakia and Pseudophakia Study, and the Pediatric Eye Disease Investigator Group Cataract Registry. CONCLUSIONS: Intraocular lenses are a valuable tool in the care of children with lens abnormalities. Recent studies and advancements in fixation techniques have complimented our care and highlighted age and ocular dependent risks. Thorough initial clinical assessment and long-term postoperative management are critical in maximizing outcomes.

Predictive Factors of Complications and Visual Outcomes after Pediatric Cataract Surgery: A Single Referral Center Study from Türkiye.

Objectives: To evaluate the predictive factors of complications and visual acuity outcomes in pediatric cataract patients. Materials and Methods: This retrospective, observational clinical study included 80 eyes of 50 patients treated for pediatric cataracts between 2010 and 2020. The eyes were divided into Group I (congenital cataracts, n=38) and Group II (developmental cataracts, n=42). Group II was also divided into Group IIA (aphakic, n=21) and Group IIB (pseudophakic, n=21). The effects of the age, laterality, cataract morphology, intraocular lens implantation, preoperative nystagmus/strabismus, and intraoperative anterior hyaloid rupture on complications and final best-corrected visual acuity (BCVA; logMAR) were evaluated. Results: The median (interquartile range) age and follow-up time were 28 (5-79) months and 60 (29-84) months, respectively. There was a significant difference in mean final BCVA between Group I (0.79±0.46) and Group II (0.57±0.51) (p=0.047); however, no difference was observed between Group IIA and Group IIB (p=0.541). Having congenital cataract (p=0.045), preoperative nystagmus/strabismus (p=0.042), total/mature cataract (p<0.001), and postoperative complications (p=0.07) were significantly associated with final BCVA. However, in multivariate analysis, only total/mature cataract (ß: 0.52, p<0.001) and having any complication (ß: 0.24, p=0.018) were associated with final BCVA. Congenital cataract and intraoperative anterior hyaloid rupture were the only significant risk factors of postoperative complications on univariate (p=0.027 and p=0.003, respectively) and binary logistic regression analysis (odds ratio [OR]: 2.95 [95% confidence interval: 1.07-8.15], p=0.036 and OR: 4.28 [95% confidence interval: 1.55-11.77], p=0.005, respectively). Conclusion: Total/mature cataract and the presence of any postoperative complication adversely affected the final BCVA. Having a congenital cataract and intraoperative anterior hyaloid membrane rupture increased the risk of complications.

Hotspots and frontiers of genetic research on pediatric cataracts from 2013 to 2022: a scientometric analysis.

AIM: To explore the hotspots and frontiers of genetic research on pediatric cataracts. METHODS: Global publications from 2013 to 2022 related to genes in pediatric cataracts were extracted from the Web of Science Core Collection, and were analyzed in terms of the publication counts, countries, journals, authors, keywords, cited references, subject categories, and the underlying hotspots and frontiers. RESULTS: Totally 699 publications were included in the final analysis. The predominant actors were identified, with China (n=240) and PLoS One (n=33) being the most productive country and journal respectively. The research hotspots extracted from keywords were crystallin gene mutations, pathogenicity evaluation, phenotypes of ocular and neurodevelopmental abnormalities, genes encoding membrane proteins, and diagnosis of multisystemic disorders. The co-cited articles formed 10 clusters of research topics, including FYCO1 (56 items), mutation screening (43 items), gap junction (29 items), the Warburg Micro syndrome (29 items), ephrin-A5 (28 items), novel mutation (24 items), eye development and function (22 items), cholestanol (7 items), OCRL (6 items), and pathogenicity prediction (3 items). The research frontiers were FYCO1, ephrin-A5, and cholestanol. Cell biology showed the strongest bridging effects among different disciplines in the field (betweenness centrality=0.44). CONCLUSION: With the progress in next-generation sequencing and multidisciplinary collaboration, genetic research on pediatric cataracts broadens the knowledge scope of the crystalline lens, as well as other organs and systems, shedding light on the molecular mechanisms of systemic diseases. Cell biology may integrate multidisciplinary content to address cutting-edge issues in the field.

Cataract surgery following penetrating keratoplasty in children.

Background: Following penetrating keratoplasty, cataract surgery warrants certain modifications to ensure maximum survival of the graft. Purpose: To emphasize the intraoperative challenges and surgical manipulations to be followed. Synopsis: The surgeon makes a superior sclerocorneal tunnel avoiding the graft host junction. Dispersive viscoelastic is used. Continuous curvilinear capsulorhexis is done. Cataractous lens aspirated with a low flow rate. The intraocular lens is placed in the bag. Superior peripheral iridectomy and primary posterior capsulorhexis are done. The wound closed with two interrupted 10-0 nylon sutures. Graft host junction integrity is maintained. Highlights: Ensure 1. Good intraoperative corneal visibility, 2. Avoid graft host junction for main port incision 3. Generous dispersive viscoelastic use/soft shell technique to protect the corneal endothelium, 4. Avoid phaco energy in case of soft cataracts/low phaco energy and flow rates, 5. Phaco probe to be meticulously oriented away from corneal endothelium, 6. Primary posterior capsulorhexis to be done as in any pediatric cataract surgery, 7. Make sure of the graft host junction integrity at the end of the surgery, 8. Restrict to a single port whenever possible. Video link: https://youtu.be/tu4R5JangYs.

Evolution and trends of childhood cataract research in the past 10 years: A scientometric analysis.

Purpose: To present a panoramic review of childhood cataract knowledge networks, hotspots and trends. Methods: The Web of Science Core Collection was used to retrieve the global literature on childhood cataract published between 2012 and 2021. Scientometric data were analyzed and visualized using VOSviewer and CiteSpace for metrics including publication count, citation count, country, journal, author, cited reference, subject category and their temporal trends. Results: A total of 3395 analyzed publications showed an inconsistent annual increasing trend. The USA (n = 939) was the leading contributor among countries. The Journal of American Association for Pediatric Ophthalmology and Strabismus (n = 113) had the highest number of publications among journals. Eight clusters of author collaboration network including 183 authors were identified. Gene mutation, cataract surgery management, intraocular lens implantation complications, prevalence, and glaucoma were identified as the research hotspots. Pediatric cataract surgery, new mutations, artificial intelligence, and cerebrotendinous xanthomatosis were identified as frontier research topics. "Biochemistry and molecular biology", "neurosciences", and "radiology, nuclear medicine and medical imaging" had the highest betweenness centrality values (0.38, 0.32, and 0.22). Multidisciplinary (burst years: 2020 to 2021; strength = 4.32) had the greatest strength as of 2021. Conclusions: Childhood cataract research intensely focuses on revealing the genetic background and pheno-spectrum of the diseases, innovating and/or optimizing surgical techniques, and preventing and treating postoperative complications. Artificial intelligence has shed light on the diagnosis and treatment of childhood cataracts. The advance in the research on molecular mechanisms of childhood cataracts depends on multidisciplinary cooperation.

Different strokes for anterior capsulorhexis in pediatric cataract.

Background: A successful outcome in pediatric cataract surgery is determined by an intact, curvilinear anterior capsulotomy which is dependent on the type and density of cataract, the morphology of the anterior capsule, and associated anterior segment pathologies. Purpose: This video highlights 10 different techniques which can be used for capsulorhexis in pediatric cataract. Synopsis: The choice of technique for capsulorhexis in pediatric cataract is on case basis, namely the gold standard manual capsulotomy aided by rhexis forceps (1. Standard capsulorhexis/2. Vitrector, Vitrectorhexis), with an assistance from capsular staining (3. Blue-rhexis), or by coaxial illumination (4. Coaxial-rhexis) or by just the sheen of capsule (5. Sheen-rhexis). The anterior chamber can be maintained using ophthalmic visco-elastic device (Visco-rhexis) or by irrigation fluid (6. Hydro-rhexis). A speed-breaker in the routine capsulotomy is the presence of plaque which is managed by rhexis forceps (7. Plaque-rhexis) or by a vitrector (vitrectorhexis) or a pair of micro-scissors (8. Scissor rhexis). Above all, the technology of femto-second-laser-assisted (9. Femto-rhexis) and zepto-pulse-precision capsulotomy (10. Zepto-rhexis) is also illustrated. Highlights: This video highlights the 10 different techniques of capsulorhexis in pediatric cataract surgery. Video Link: https://youtu.be/TgDrk5RYdbI.

Mutational spectrum in a Chinese cohort with congenital cataracts.

BACKGROUND: To identify the mutational spectrum in a Chinese cohort with congenital cataracts. METHODS: Probands (n = 164) with congenital cataracts and their affected or unaffected available family members were recruited for clinical examinations and panel-based next-generation sequencing, then classified into a cohort for further mutational analysis. RESULTS: After recruitment (n = 442; 228 males and 214 females), 49.32% (218/442) of subjects received a clinical diagnosis of congenital cataracts, and 56.88% (124/218) of patients received a molecular diagnosis. Eighty-four distinct variants distributed among 43 different genes, including 42 previously reported variants and 42 novel variants, were detected, and 49 gene variants were causally associated with patient phenotypes; 27.37% of variants (23/84) were commonly detected in PAX6, GJA8 and CRYGD, and the three genes covered 33.06% of cases (41/124) with molecular diagnosis. The majority of genes were classified as genes involved in nonsyndromic congenital cataracts (19/43, 44.19%) and were responsible for 56.45% of cases (70/124). The majority of functional and nucleotide changes were missense variants (53/84, 63.10%) and substitution variants (74/84, 88.10%), respectively. Nine de novo variants were identified. CONCLUSION: This study provides a reference for individualized genetic counseling and further extends the mutational spectrum of congenital cataracts.

Treatment of visual axis opacification and secondary membranes with Nd:YAG laser after pediatric cataract surgery under intranasal sedation.

Purpose: To describe neodymium-doped yttrium-aluminum-garnet (Nd:YAG) laser treatment of visual axis opacification and secondary membranes in pediatric patients with cataracts under intranasal dexmedetomidine sedation. Methods: Twenty eyes of 17 patients with secondary membrane formation after cataract extraction were enrolled in this study. Intranasal dexmedetomidine sedation (3 ug/kg) was administered, and Nd:YAG laser (Ellex Super Q, Adelaide, Australia) procedures were performed with children in the sitting position with their chin supported on a laser delivery slit lamp. Preoperative and postoperative visual acuities were documented, and medical records were reviewed. Results: The age of the patients ranged from 5 to 83 months (31.82 ± 27.73). Nineteen (95.0%) eyes had congenital cataracts and one (5.0%) had a traumatic cataract. Nd:YAG laser treatment of VAO with ten (50.0%) eyes, pupillary membranes with three (15.0%) eyes, pupillary cortical proliferation with six (30.0%) eyes, and anterior capsule contraction with one (5.0%) eye. Five (25.0%) eyes demonstrated visual acuity improvement, whereas six (30.0%) eyes remained unchanged after laser treatment. The recurrence rate was 30.0% and four eyes underwent a second Nd:YAG membranectomy. No side effects or tolerances due to sedative drugs were observed. Conclusion: Nd:YAG laser membranectomy under intranasal dexmedetomidine sedation was safely performed in children as young as 5 months old in a sitting position. This approach facilitates patient convenience, doctor proficiency, and cost reductions. Patients with recurrence can be treated by repeating the procedure.

Comparison of baseline biometry measures in eyes with pediatric cataract to age-matched controls.

PURPOSE: To compare baseline biometry measurements in eyes with pediatric cataract versus age-matched controls METHODS: This is a cross-sectional study conducted at a tertiary care hospital that included two arms-prospective arm to collect data from normal eyes and retrospective arm for eyes with pediatric cataract. In the prospective arm, biometry measurements were obtained in healthy children aged 0 to 10 years. Children under the age of four had measurements under anesthesia for an unrelated procedure, while older children had in-office measurements using optical biometry. For comparison, biometric data was collected in children with pediatric cataract through record review. One eye of each patient was randomly selected. Axial length (AL) and keratometry (K) were compared by age and laterality. The medians were compared using Wilcoxon rank-sum tests and variances using Levene's test. RESULTS: There were 100 eyes in each arm, 10 eyes in each age bin of 1-year interval. There was more variability in baseline biometry in eyes with pediatric cataract and a trend for longer AL and steeper K in cataract eyes than aged-matched controls. The difference in AL means was significant in age group 2-4 years, and variances were significant across all age groups (p=0.018). Unilateral cataracts (n=49) showed a trend toward greater variability in biometry than bilateral cataracts, but this did not reach statistical significance. CONCLUSION: Baseline biometry measures are more variable in eyes with pediatric cataract compared to age-matched controls with a trend toward longer AL and steeper K.

30G needle aspiration - A modified technique of capsulorhexis in pediatric cataract with high intra-lenticular pressure.

This surgical technique describes a modification of the continuous curvilinear capsulorhexis (CCC) to achieve an adequate-sized capsulorhexis in pediatric cataracts with high intralenticular pressure. Performing CCC in pediatric cataracts is challenging, especially when the intralenticular pressure is high. This technique involves 30 G needle decompression of the lens to reduce positive intralenticular pressure and subsequent flattening of the anterior capsule. This minimizes the chances of extension of CCC without using any special equipment. This technique was used in two eyes of two patients (age 8 and 10 years) with unilateral developmental cataracts. Both surgeries were performed by a single surgeon (PKM). In both eyes, a well-centered CCC was achieved with no extension, and a posterior chamber intraocular lens (IOL) was placed in the capsular bag. Thus, our technique of 30 G needle aspiration could be extremely useful to achieve an adequately sized CCC in pediatric cataracts with high intralenticular pressure, especially for beginner surgeons.