Characterization of the anterior segment in Trisomy 21-associated cataract using ultrasound biomicroscopy.

Backgroundobjectives: To compare the structural anatomy of the anterior segment in pediatric Trisomy 21 (T21) subjects with and without cataracts to age-matched controls. Design: Prospective case-control study. Participants: 40 subjects (57 eyes) age 0-25 years old (9.1 ± 10.6 years). Methods: This prospective case-control study evaluated anterior segment measurements from ultrasound biomicroscopy (UBM) imaging on 342 images. Results: Among persons with T21 cataract, the iris was significantly thinner than T21 individuals without cataract (0.28 vs 0.32 mm, p = 0.0181). T21/cataract subjects also had significantly thinner lenses than subjects without cataract, regardless of whether they have T21 or are controls (3.1 mm vs 3.5 mm, p = 0.0074).Thinner lens (<3.5 mm) was insignificantly associated with increased odds of cataract (OR = 9.5 [0.872,104], p = 0.065). Thinner iris (<0.32 mm) was associated with increased odds of cataract (OR = 8.4 [1.188, 59.273], p = 0.033). Conclusions: These findings support the hypothesis that subtle quantitative anatomic variants are present in the anterior eye of individuals with T21. Specific anatomic variants are unique to the presence of cataract among subjects with T21.

Parameters influencing the effectiveness of femtosecond laser-assisted capsulotomy in white cataract surgery.

Purpose: To explore the parameters that may influence the effectiveness of femtosecond laser-assisted capsulotomy in white cataract surgery and its cutoff points. Design: A retrospective case series. Methods: This retrospective case series study enrolled patients with white cataract who had undergone surgery at Changsha Aier Eye Hospital from July 2018 to January 2020. All patients underwent femtosecond laser-assisted capsulotomy using a contact femtosecond laser device (LenSx, Alcon Laboratories, USA). The sex, age, corrected distance visual acuity (CDVA), intraocular pressure (IOP), axial length (AL), lens thickness (LT), anterior chamber depth (ACD) and mean keratometry (Km) were recorded. All eyes were divided into successful capsulotomy group and unsuccessful capsulotomy group according to the capsulotomy integrity. Both groups were compared and two-sample t-test was used in order to find the optimal cutoff points of the parameters. Results: 60 eyes of 59 patients were included in the study. A successful capsulotomy was achieved in 36 eyes (60 %), while unsuccessful capsulotomy occurred in 24 eyes (40 %). Although no significant differences were observed in sex (P = 0.704), AL (P = 0.598) and Km (P = 0.873) between both groups, LT (P < 0.01), ACD (P = 0.014) and age (P < 0.01) were significantly different; a LT of 5.21 mm was found to be the optimal cutoff point. Conclusions: Femtosecond laser-assisted capsulotomy in white cataract is safe and effective. LT, ACD and age may influence the effectiveness of femtosecond laser-assisted capsulotomy in patients with white cataracts. LT is the main associated parameter and 5.21 mm is the optimal cutoff point for LT.

Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants.

Heterozygous mutations in the OPA3 gene are associated with autosomal dominant optic atrophy-3 (OPA3), whereas biallelic mutations cause autosomal recessive 3-methylglutaconic aciduria type III. To date, all cases with pathogenic variants in the gene OPA3 have presented with optic atrophy. We report a large family with congenital cataracts, hearing loss and neuropathy, with a likely pathogenic novel missense variant in OPA3, c.30G>C; p.(Lys10Asn) that segregates with disease in the family pedigree. The family's clinical presentation has significant phenotypic overlap with previously reported cases of OPA3, except for a notable lack of optic atrophy. The analysis of all known disease-associated variants in OPA3 revealed an enrichment in missense variants in patients with OPA3 phenotype compared with loss-of-function variants, which are more likely to be observed in individuals with 3-methylglutaconic aciduria type III, supporting different mechanisms of disease. This case broadens the clinical and genetic spectrum associated with OPA3 mutations and highlights that optic atrophy is not an obligate feature of OPA3-related disorders.

Validation of a New Test for Measuring the Contrast Sensitivity Function (Optopad-CSF) at Near Vision.

Our purpose is to develop and validate a new iPad-based contrast sensitivity (CS) test for measuring the contrast sensitivity function at near vision (Optopad-CSF). A total of 200 eyes of 100 healthy subjects (ages 17-63) were evaluated in a comparative study between the Optopad-CSF test (near vision) and the CSV-1000E test (distance vision). The agreement between tests was assessed with the index of contrast sensitivity (ICS) and the area under the curve (AUC). CS for all the spatial frequencies in both eyes showed a negative significant correlation with age, and corrected distance, and near visual acuities (r ≤ -0.512, p ≤ 0.013). A significantly lower CS was found with the Optopad-CSF test in the over-40-year-old subgroup for all the spatial frequencies evaluated compared to the below-40 subgroup (p ≤ 0.008). The mean AUC of the Optopad-CSF test (5.84) was twice that of the CSV-1000E test (2.76). The mean ICS of the Optopad-CSF (-0.019) and CSV-1000E (-0.075) tests showed similar values, both close to 0 (p = 0.3). There was a weak but significant correlation between the Optopad-CSF and CSV-1000E ICS tests (r = 0.246, p < 0.02). A range of normality for the values obtained with the Optopad-CSF test was calculated. The mean CS values in 16 bilateral cataract patients were out of the normal range for all the spatial frequencies evaluated (p < 0.001). Optopad-CSF is a valid portable system for measuring CS at near vision for five spatial frequencies, allowing the detection of age-related changes in CSF with age and CSF loss in cataracts, with no ceiling effect.

Glare prediction and mechanism of adaptation following implantation of hydrophilic and hydrophobic intraocular lenses.

Purpose: Glare is a known side effect of intraocular lens (IOL) implantation, affected principally by IOL material and optics, although it is reported subjectively to decrease in impact with time. However, little objective data have been published on changes over time, how these relate to subjective reports, and whether those who will report greater glare symptoms can be predicted prior to IOL implantation. Methods: A total of 32 patients (aged 72.4 ± 8.0 years) with healthy eyes were implanted bilaterally with hydrophilic 600s (Rayner, Worthing, UK) or hydrophobic Acrysof (Alcon, Texas, USA) acrylic IOLs (n = 16 each, randomly assigned). Each patient reported their dysphotopsia symptoms subjectively using the validated forced choice photographic questionnaire for photic phenomena, and halo size resulting from a bright light in a dark environment was quantified objectively in eight orientations using the Aston Halometer. Assessment was performed binocularly pre-operatively and at 1, 2, 3, and 4 weeks after IOL implantation. Setting: The study was carried out at the National Health Service Ophthalmology Department, Queen Elizabeth Hospital, Birmingham, UK. Results: Visual acuity (average 0.37 ± 0.26 logMAR) did not correlate with subjective glare (r = 0.184, p = 0.494) or objective glare (r = 0.294, p = 0.270) pre-surgery. Objective halo size (F = 112.781, p < 0.001) decreased with cataract removal and IOL implantation and continued to decreased over the month after surgery. Subjective dysphotopsia complaints (p < 0.001) were also greater pre-surgery, but did not change thereafter (p = 0.228). In neither case was there a difference with IOL material (p > 0.05). It was not possible to predict post-surgery dysphotopsia from symptoms or a ratio of symptoms to halo size pre-surgery (p > 0.05). Conclusions: Subjective dysphotopsia and objective halos caused by cataracts are greatly reduced by implantation of IOL after cataract removal causing few perceivable symptoms. However, objective measures are able to quantify a further reduction in light scatter over the first month post-IOL implantation, suggesting that any subjective effects over this period are due to the healing process and not due to neuroadaptation.

The Effect of Racial/Ethnic and Socioeconomic Differences on Visual Impairment Prior to Cataract Surgery.

PURPOSE: To compare the associations of race/ethnicity and socioeconomic status (SES) with visual impairment (VI) prior to surgical removal of cataracts across two large health systems in the U.S. Mid-Atlantic region. DESIGN: Multi-institutional cross-sectional data study. PARTICIPANTS: Patients aged 65 and older who underwent cataract surgery at Johns Hopkins Hospital (JHH) and Kaiser Permanente (KP) between January 1, 2017 and December 31, 2019. METHODS: Covariates included patient age, sex, smoking status, surgery laterality, Charlson Comorbidity Index (CCI), and ocular comorbidities. Multivariable generalized estimating equation models were used to examine the association of race/ethnicity and area deprivation index (ADI) with visual acuity. MAIN OUTCOME MEASURES: Visual acuity prior to cataract surgery was assessed using Log of Minimum Angle of Resolution (logMAR). Race/ethnicity and ADI were the main exposures of interest. RESULTS: At JHH, 11,509 patients (17,731 eyes) were included, while KP had 7,143 patients (10,542 eyes). After adjusting for covariates, Black (ß, 0.49), Asian (ß, 0.83), and Hispanic patients (ß, 0.95) were more likely to have worse visual acuity secondary to cataracts at JHH (P < 0.001 for all) compared to White patients. Similarly, at KP, Black (ß, 0.56), Asian (ß, 0.70), and Hispanic patients (ß, 0.89) were more likely to have worse visual acuity (P < 0.001 for all) compared to White patients. Compared to those living in the least disadvantaged neighborhoods (Quartile [Q]1 ADI) at JHH, higher ADI quartiles (more deprived) were more likely to have worse visual acuity (ß, 0.27; P = 0.001 for Q2, ß, 0.40; P = 0.001 for Q3, ß, 0.95; P < 0.001 for Q4). There was no significant association found between ADI and VI secondary to cataracts at KP. CONCLUSIONS: Among older adults, non-White race/ethnicity was independently associated with VI secondary to cataracts in two large health systems in the U.S. Mid-Atlantic region, after adjustment for ADI. Area deprivation was also associated with VI but only in the JHH system. Our study suggests that non-White patients and those with lower SES are at greater risk of VI secondary to cataracts possibly due to social, structural and institutional barriers.

Clinical and Visual Outcomes of Four Presbyopia Correcting Intraocular Lenses.

Purpose: To compare objective and subjective outcomes of the multifocal intraocular lenses ReSTOR SN6AD1 and Tecnis ZKB00, extended depth of focus IOL Symfony ZXR00, and trifocal IOL PanOptix TFNT00. Methods: This study included 262 patients (524 eyes) who had phacoemulsification with IOL implantation, 128 eyes with SN6AD1, 124 eyes with ZKB00, 136 eyes with ZXR00, and 136 eyes with TFNT00. Objective outcomes included one-month postoperative uncorrected (U) and corrected (C) distance (D) and near (N) visual acuities (VA). Subjective outcomes included photic phenomena, spectacle use, and spectacle-independent visual function. Results: Spectacle use (%) in the SN6AD1, ZKB00 ZXR00, and TFNT00 groups was 39, 64, 87, and 37 respectively (P < 0.0001). Presence of photic phenomena (%) for SN6AD1, ZKB00, ZXR00, and TFNT00 was 66, 61, and 67, and 73, respectively (P = 0.57). Spectacle-independent mean VF-14 score (%) for SN6AD1, ZKB00, ZXR00, and TFNT00 was 89.5, 87.2, 80.9, and 83.6, respectively (P < 0.01). Conclusion: All four IOLs provided excellent postoperative visual acuity and equally high rates of photic phenomena. SN6AD1 and TFNT00 provided the least spectacle use while ZXR00 had the highest spectacle use.

The Assessment of Retinal Image Quality Using a Non-Mydriatic Fundus Camera in a Teleophthalmologic Platform.

This study assesses the quality of retinal images captured using a non-mydriatic fundus camera within a teleophthalmologic platform in Taiwan. The objective was to evaluate the effectiveness of non-mydriatic fundus cameras for remote retinal screening and identify factors impacting image quality. From June 2020 to August 2022, 629 patients from five rural infirmaries underwent ophthalmic examinations, with fundus images captured without pupil dilation. These images were reviewed by senior ophthalmologists and graded based on quality. The results indicated that approximately 70% of images were of satisfactory diagnostic quality. Risk factors for poor image quality included older age, the presence of cataracts, pseudophakia, and diabetes mellitus. This study demonstrates the feasibility of using non-mydriatic fundus cameras for teleophthalmology, highlighting the importance of identifying and addressing factors that affect image quality to enhance diagnostic accuracy in remote settings.

Proteomics Analyses of Small Extracellular Vesicles of Aqueous Humor: Identification and Validation of GAS6 and SPP1 as Glaucoma Markers.

Cataracts and glaucoma account for a high percentage of vision loss and blindness worldwide. Small extracellular vesicles (sEVs) are released into different body fluids, including the eye's aqueous humor. Information about their proteome content and characterization in ocular pathologies is not yet well established. In this study, aqueous humor sEVs from healthy individuals, cataracts, and glaucoma patients were studied, and their specific protein profiles were characterized. Moreover, the potential of identified proteins as diagnostic glaucoma biomarkers was evaluated. The protein content of sEVs from patients' aqueous humor with cataracts and glaucoma compared to healthy individuals was analyzed by quantitative proteomics. Validation was performed by western blot (WB) and ELISA. A total of 828 peptides and 192 proteins were identified and quantified. After data analysis with the R program, 8 significantly dysregulated proteins from aqueous humor sEVs in cataracts and 16 in glaucoma showed an expression ratio ≥ 1.5. By WB and ELISA using directly aqueous humor samples, the dysregulation of 9 proteins was mostly confirmed. Importantly, GAS6 and SPP1 showed high diagnostic ability of glaucoma, which in combination allowed for discriminating glaucoma patients from control individuals with an area under the curve of 76.1% and a sensitivity of 65.6% and a specificity of 87.7%.

Through the Cat-Map Gateway: A Brief History of Cataract Genetics.

Clouding of the transparent eye lens, or cataract(s), is a leading cause of visual impairment that requires surgical replacement with a synthetic intraocular lens to effectively restore clear vision. Most frequently, cataract is acquired with aging as a multifactorial or complex trait. Cataract may also be inherited as a classic Mendelian trait-often with an early or pediatric onset-with or without other ocular and/or systemic features. Since the early 1990s, over 85 genes and loci have been genetically associated with inherited and/or age-related forms of cataract. While many of these underlying genes-including those for lens crystallins, connexins, and transcription factors-recapitulate signature features of lens development and differentiation, an increasing cohort of unpredicted genes, including those involved in cell-signaling, membrane remodeling, and autophagy, has emerged-providing new insights regarding lens homeostasis and aging. This review provides a brief history of gene discovery for inherited and age-related forms of cataract compiled in the Cat-Map database and highlights potential gene-based therapeutic approaches to delay, reverse, or even prevent cataract formation that may help to reduce the increasing demand for cataract surgery.

Comparison of the axial growth with multifocal and monofocal intraocular lenses in unilateral pediatric cataract surgery.

PURPOSE: To compare axial growth in pediatric cataract patients who underwent multifocal intraocular lens (IOL) implantation without anterior vitrectomy (AV) with that in pediatric patients who underwent monofocal IOL implantation with or without AV. METHODS: Patients who had unilateral pediatric cataracts and underwent surgery at 3-6 years of age from June 6, 2019, to June 30, 2020, at our institution were prospectively analyzed. The patients were categorized into Group A: multifocal IOL implantation with optic capture in Berger's space without AV; Group B: monofocal IOL implantation with optic capture in Berger's space without AV; and Group C: bag-in-the-lens monofocal IOL implantation with AV. Groups A', B' and C' consisted of the fellow eyes from the respective groups. Axial growth and monthly growth rates were compared among the 3 treatment groups, as well as between the treated eyes and the fellow eyes. RESULTS: Thirty-one, 23, and 14 children fulfilling the inclusion criteria, respectively, were included in the final analysis. There were no significant differences in patient age at the time of surgery or preoperative axial length (P > 0.05). After a mean follow-up of 35.57 ± 3.78 months, significant differences in the axial growth and the monthly growth rate were observed (P < 0.05), and Group A had the least axial elongation. Comparing treated eyes with fellow eyes, the amount and rate of axial growth were lower in Group A than in Group A' (P < 0.05), no significant differences were found in Group B (P > 0.05), and Group C had greater growth than did Group C' (P < 0.05). CONCLUSIONS: The implanting multifocal intraocular lenses and maintenance of vitreous body integrity may be protective factors against excessive axial growth in pediatric cataract patients. Clinical trial registration (prospective study): chiCRT1900023155; 2019-05-14.

Feasibility of shear wave elastography for evaluating lens stiffness in patients with age-related cataracts: A quantitative analysis.

Background: Shear wave elastography (SWE) is a novel imaging technique that provides quantitative assessments of tissue stiffness. This non-invasive method offers real-time, quantitative measurements and has been widely applied to various tissues, providing valuable diagnostic insights. Purpose: This study aimed to investigate the feasibility of using SWE to evaluate the stiffness of the lens in patients with age-related cataracts. Materials and methods: A comparative analysis involving 92 patients diagnosed with age-related cataracts and 39 healthy controls was conducted. Lens stiffness was quantified using SWE measurements. The lens nucleus of all participants was graded based on the Lens Opacities Classification System II (LOCS II). Correlations between the stiffness of the lens and age were also analyzed. Results: The study indicates that both the stiffness of the lens and the lens nucleus were significantly higher in patients with age-related cataracts compared to healthy controls (P < 0.001). In patients with age-related cataracts, although lens nucleus stiffness variations across different grades of cataract severity were not statistically significant, all grades displayed increased stiffness relative to healthy controls. Additionally, a significant positive correlation between lens stiffness and age was observed in all participants (P < 0.001). Conclusion: SWE appears to be a promising imaging technique for quantitatively assessing the mechanical characteristics of the lens in patients with age-related cataracts.

Depression and Eye Disease-A Narrative Review of Common Underlying Pathophysiological Mechanisms and their Potential Applications.

Background: Depression has been shown to be associated with eye diseases, including dry eye disease (DED), cataracts, glaucoma, age-related macular degeneration (AMD), and diabetic retinopathy (DR). This narrative review explores potential pathophysiological connections between depression and eye disease, as well as its potential correlations with ocular parameters. Methods: A literature search was conducted in August 2022 in PUBMED, EMBASE, and PsycINFO. Published articles related to the subject were consolidated and classified according to respective eye diseases and pathophysiological mechanisms. Results: The literature reviewed suggests that common pathophysiological states like inflammation and neurodegeneration may contribute to both depression and certain eye diseases, while somatic symptoms and altered physiology, such as disruptions in circadian rhythm due to eye diseases, can also influence patients' mood states. Grounded in the shared embryological, anatomical, and physiological features between the eye and the brain, depression is also correlated to changes observed in non-invasive ophthalmological imaging modalities, such as changes in the retinal nerve fibre layer and retinal microvasculature. Conclusions: There is substantial evidence of a close association between depression and eye diseases. Understanding the underlying concepts can inform further research on treatment options and monitoring of depression based on ocular parameters.

Participation of Lens Proteins and miRs in Traumatic and Inheritance Cataract: A Review on Diagnostic and Therapeutic Approaches for Cataract Management.

Traumatic and inherited cataract spiking blindness is caused by accumulated deposition of mutant eye lens protein or lens microarchitecture alteration. A traumatic cataract is a clouding of the eye's natural lens that occurs as a result of physical trauma to the eye. This trauma can be caused by various incidents such as blunt force injury, penetration by a foreign object, or a significant impact on the eye area. Inheritance cataracts or hereditary cataracts are cataracts that are genetically inherited from one or both parents. Complications following cataract surgery encompass various adverse outcomes such as inflammation, infection, bleeding, swelling, drooping eyelid, glaucoma, secondary cataracts, and complete loss of vision. The main purpose of the review is to highlight common pathophysiology associated with traumatic and inherited cataracts. Also, the review discusses diagnosis and treatment strategies for such cataract types by targeting their key pathological hallmarks. γD-crystallin plays a crucial role in maintaining the optical properties of the lens during the life span of an individual. Carbamazepine, Resveratrol, and Myricetin (CRM) are effectively bound at the γD-crystallin binding site and thereby could minimize misfolding and aggregation of γD-crystallin. miR-202, miR-193b, miR-135a, miR365, and miR-376a had the highest levels of abundance in the aqueous humor of individuals diagnosed with cataracts. The validation of these miRs will provide more insights into their functional roles and may be used for diagnostic purposes. The effective CRM combination as a multidrug formulation may postpone both traumatic and inherited cataracts and protect the eye from blindness.

Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

BACKGROUND: Biallelic ZBTB11 variants have previously been associated with an ultrarare subtype of autosomal recessive intellectual developmental disorder (MRT69). OBJECTIVE: The aim was to provide insights into the clinical and genetic characteristics of ZBTB11-related disorders (ZBTB11-RD), with a particular emphasis on progressive complex movement abnormalities. METHODS: Thirteen new and 16 previously reported affected individuals, ranging in age from 2 to 50 years, with biallelic ZBTB11 variants underwent clinical and genetic characterization. RESULTS: All patients exhibited a range of neurodevelopmental phenotypes with varying severity, encompassing ocular and neurological features. Eleven new patients presented with complex abnormal movements, including ataxia, dystonia, myoclonus, stereotypies, and tremor, and 7 new patients exhibited cataracts. Deep brain stimulation was successful in treating 1 patient with generalized progressive dystonia. Our analysis revealed 13 novel variants. CONCLUSIONS: This study provides additional insights into the clinical features and spectrum of ZBTB11-RD, highlighting the progressive nature of movement abnormalities in the background of neurodevelopmental phenotype. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Prescription glucocorticoid medication and iridocyclitis are associated with an increased risk of senile cataract occurrence: a Mendelian randomization study.

Iridocyclitis and the use of glucocorticoid medication have been widely studied as susceptibility factors for cataracts. However, the causal relationship between them remains unclear. This study aimed to investigate the causal relationship between the development of iridocyclitis and the genetic liability of glucocorticoid medication use on the risk of senile cataracts occurrence by performing Two-sample Mendelian randomization (MR) analyses. Instrumental variables (IVs) significantly associated with exposure factors (P < 5 × 10-8) were identified using published genome-wide association data from the FinnGen database and UK Biobank. Reliability analyses were conducted using five approaches, including inverse-variance weighted (IVW), MR-Egger regression, simple median, weighted median, and weighted mode. A sensitivity analysis using the leave-one-out method was also performed. Genetic susceptibility to glucocorticoid use was associated with an increased risk of developing senile cataracts (OR, 1.10; 95% CI, 1.02-1.17; P < 0.05). Moreover, iridocyclitis was significantly associated with a higher risk of developing senile cataracts (OR, 1.03; 95% CI, 1.01-1.05; P < 0.05). Nonetheless, some heterogeneity in the IVs was observed, but the MR results remained consistent after penalizing for outliers. The estimates were consistent in multivariate analyses by adjusting for body mass index (BMI) and diabetes mellitus type 2 (T2DM). This study provides new insights into the prevention and management of senile cataracts by highlighting the increased risk associated with iridocyclitis and the use of glucocorticoids.

Effect of clinical whole exome sequencing in aetiological investigation and reproductive risk prediction for a couple with monogenic inherited diseases.

Objective: To determine the genetic causes of monogenic inherited diseases in a couple using clinical whole exome sequencing (WES) and advise on their reproductive choices. Methods: WES was applied to a couple seeking reproductive advice, the female with short stature and the male with congenital cataracts. Results: (1) The woman exhibited a 13.8 Kb heterozygous deletion at chrX: 591590-605428 (hg19). This region corresponds to exons 2-6 of the short-stature homeobox-containing (SHOX) gene (NM000451). Associated diseases involving the SHOX gene range from severe Leri-Weill dyschondrosteosis to mild nonspecific short stature. Meanwhile, further validation using a quantitative reverse transcription polymerase chain reaction assay confirmed the heterozygous deletion of the SHOX gene in the proband, as well as other family members with similar clinical characteristics (the proband's mother, aunt, and cousin). Multiple pathogenic reports of this variant have been included in the HGMD database. Per the American College of Medical Genetics and Genomics (ACMG) classification criteria, this deletion is classified as pathogenic. (2) For the male patient, a heterozygous variant was detected in the CRYBB3 gene: NM004076: c.226G>A (p.Gly76R). Variants in the CRYBB3 gene can cause Cataract 22 (OMIM: 609741). At present, this variant locus is not included in databases such as the gnomAD, while both SIFT and PolyPhen2 deem this locus 'damaging'. Moreover, further validation by Sanger sequencing confirmed that the variant was inherited from the male patient's mother, who also had cataracts. According to ACMG standards and guidelines, the c.226G>A (p.Gly76Arg) variant in the CRYBB3 gene is classified as having 'uncertain significance'. Conclusion: WES identified pathogenic variants in both individuals, suggesting a 25% chance of a healthy child naturally. Third-generation assisted reproductive techniques are recommended to minimize the risk of affected offspring.

Eye-Related Adverse Events After I-131 Radioiodine Therapy: A Systematic Review of the Current Literature.

OBJECTIVE: Although I-131 is relatively safe, there is limited focus on probable eye-related side effects after radioactive iodine (RAI) therapy. Thus, we aimed to provide evidence for the adverse outcomes of I-131, exclusively in patients with thyroid cancer. METHODS: A systematic review based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines was designed to examine the ocular complications of RAI therapy. Databases including PubMed, Scopus, and Web of Science were searched until October 2023 with specific thyroid neoplasms, ophthalmology and iodine terms. After thorough screening and review, relevant data were extracted. RESULTS: The database search yielded 3434 articles, which resulted in the final 28 eligible studies. These studies investigated ophthalmic symptoms following RAI therapy, classifying them as obstructive diseases (for example, nasolacrimal duct obstruction; median incidence rate: 6.8%), inflammatory symptoms (median incidence rate: 13%), and cataracts (median incidence rate: 2.5 and 5%). The most common time interval between RAI therapy and the onset of symptoms was within the first 12 months and then declined in the preceding years. A strong positive correlation was observed between higher I-131 doses of more than 100 to 150 mCi (3.7-5.55 GBq) and the risk of symptom development. Ages older than 45 also showed a significant association with nasolacrimal duct obstruction. CONCLUSION: The risk of ophthalmic complications is associated with various factors, including the administration of high I-131 doses, age of more than 45 years, and time to event within the first 12 months. Considering these conditions may help enhance patient care and prevent adverse outcomes that may limit patients' quality of life.

Early juvenile cataract in newly diagnosed type 1 diabetic patients: a description of two cases.

OBJECTIVES: To analyze and summarize the clinical characteristics and treatment of juvenile patients with type 1 diabetes mellitus (T1DM) complicated by early cataract. CASE PRESENTATION: This retrospective study collected clinical data from 210 children and adolescents newly diagnosed with T1DM who were admitted to the Department of Pediatrics, Tongji Hospital (Wuhan) between 2015 and 2022. Among 210 patients with T1DM, early cataract developed within 3 months before diabetes onset and 12 months thereafter in 2 (0.95 %) patients. The two patients were both females, aged 13 and 9 years, respectively. In both cases, cataracts in both eyes appeared in the early stages of T1DM, showing a short course and rapid development. After intensive insulin treatment for stringent and stable blood glucose control, one patient underwent cataract extraction with significant improvement, and her visual acuity returned to normal. The other patient received intensive insulin therapy and insulin pump therapy for 8 years. Subsequently, she underwent cataract surgery after achieving stable blood glucose levels, without complete recovery of vision. CONCLUSIONS: Cataract is a rare complication in the early stages of T1DM in children and adolescents. Ophthalmic surgery is the preferred treatment for patients with diabetic cataract after achieving stable glycemic control, which may help prevent visual impairment.

The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis.

Up to 25% of pediatric cataract cases are inherited. There is sparse information in the literature regarding the cost of whole-exome sequencing (WES) for suspected hereditary pediatric cataracts. Molecular diagnosis of suspected hereditary pediatric cataracts is important for comprehensive genetic counseling. We performed a partial economic evaluation with a mixed costing analysis, using reimbursement data and microcosting approach with a bottom-up technique to estimate the cost of using WES for genetic diagnosis of suspected hereditary pediatric cataracts from the perspective of the Brazilian governmental health care system. One hundred and ten participants from twenty-nine families in Rio de Janeiro (RJ) were included. Costs of consumables, staff and equipment were calculated. Two scenarios were created: (1) The reference scenario included patients from RJ with suspected hereditary pediatric cataracts plus two family members. (2) The alternative scenario considered other genetic diseases, resulting in 5,280 exams per month. Sensitivity analysis was also performed. In the reference scenario, the total cost per exam was 700.09 United States dollars (USD), and in the alternative scenario, the total cost was 559.23 USD. The cost of WES alone was 527.85 USD in the reference scenario and 386.98 USD in the alternative scenario. Sensitivity analysis revealed that the largest costs were associated with consumables in both scenarios. Economic evaluations can help inform policy decisions, especially in middle-income countries such as Brazil.