Idiopathic nephrotic syndrome (INS) is the most common chronic glomerular disease in children. Corticosteroids remain first-line therapy, and the initial response, differentiating steroid-sensitive (SSNS) from steroid-resistant (SRNS) forms, is the strongest prognostic factor. While most childhood-onset INS results from an incompletely defined dysregulation of the immune system, up to one-third of children with initial SRNS have a monogenic etiology. SSNS typically follows a relapsing-remitting course, with one-half of the patients having frequent relapses or steroid-dependence (FRNS/SDNS). Although earlier studies suggested that most SSNS patients achieve sustained remission by puberty, approximately one-fourth experience at least one relapse in adulthood. Key predictors of persistent relapsing disease include FRNS/SDNS in childhood and the need for second-line immunosuppression. The disease may evolve into secondary steroid-resistance in <10% patients with SSNS. Kidney failure and death remain uncommon. In contrast, SRNS is associated with higher risks of therapy-and disease-related complications, including growth impairment, obesity, hypertension and cardiovascular risk, osteoporosis, cataracts, calcineurin inhibitor-induced nephrotoxicity, acute kidney injury and progressive chronic kidney disease. The risk of kidney failure is three- to fourfold higher in patients with monogenic and/or multidrug-resistant SRNS. This review synthesizes current evidence on the long-term outcomes of childhood-onset INS, highlights risk stratification across clinical phenotypes, genetic diagnosis and treatment response, and challenges during transition to adult care.

To date, several genetic factors have been reported in cases presenting both congenital cataract (CC) and spastic paraplegia (SPG), but the overall genetic landscape of this condition remains insufficiently understood. Here, we describe the clinical, genetic, and functional findings in a single Japanese family presenting with hereditary CC and SPG. Affected individuals exhibited severe CC and mild SPG symptoms. Whole exome sequencing combined with stringent filtering revealed no pathogenic variants in the three known genes. Instead, we identified a heterozygous missense variant in PAX6 (NM_001258465, c.76C>T: p.Arg26Trp), a gene well known for its role in CC. RNA expression analysis showed no significant difference in PAX6 transcript levels between affected individuals and healthy controls. However, luciferase reporter assays demonstrated that the PAX6 variant protein exhibited significantly increased reporter activity compared to the wild-type protein. These findings indicate that the phenotypic spectrum of PAX6 may extend to include SPG, as observed in this single family, potentially through altered transcriptional activity.

The Naples Prognostic Score (NPS), a comprehensive indicator of inflammation and nutrition, remains unstudied in relation to cataract prevalence. We analyzed 8612 adults (≥20 years) from the National Health and Nutrition Examination Survey (NHANES) 1999-2008 in this cross-sectional study. Each 1-point increase in NPS was associated with 25% higher odds of cataract, and high NPS participants had 80% higher odds than low NPS. Restricted cubic spline (RCS) analysis indicated a significant linear association. Subgroup analysis strengthens the positive correlation between NPS and cataracts. Exploratory mediation analysis suggested that the triglyceride-glucose index-based A Body Shape Index (TyG-ABSI) may partially explain this association, particularly among nondiabetic individuals. These findings indicate that high NPS is independently and linearly associated with increased cataract prevalence in US adults, and exploratory analyses suggest that TyG-ABSI may partially mediate this association. These results support the potential benefit of maintaining optimal NPS values in mitigating cataract development.

Background and Objectives: Pseudoexfoliative glaucoma (PEXG) is a secondary glaucoma caused by the deposition of abnormal flaky protein-like material inside the eye, leading to blockage of the drainage system, increased intraocular pressure (IOP), and optic nerve damage. This study aimed to evaluate the effects of latanoprost and timolol-dorzolamide therapy on the concentrations of interleukin (IL)-1β, IL-6, IL-8, IL-10, IL-12p70, and tumor necrosis factor-alpha (TNF-α) in the aqueous humor and serum samples of patients with PEXG. Materials and Methods: This prospective observational study included 60 patients allocated to three age-matched groups (n = 20 per group). Group 1 received latanoprost therapy, Group 2 received timolol-dorzolamide therapy, and Group 3 comprised patients with cataracts without PEXG who were not receiving antiglaucoma medication (control group). All participants underwent a comprehensive ophthalmological examination, including visual acuity assessment, specular microscopy, IOP measurement, and intraocular lens (IOL) measurement. Peripheral venous blood was taken from each patient before the surgical procedure and aqueous humor samples were collected during cataract surgery. Concentrations of IL-1β, IL-6, IL-8, IL-10, IL-12p70, and TNF-α were determined using a Cytometric Bead Array and flow cytometry. Results: No significant differences were observed in the aqueous humor and serum concentrations of IL-6 and IL-8 between the treatment groups, while IL-1β, IL-10, IL-12p70, and TNF-α did not reach detection. A significant positive correlation was found between IOL and aqueous humor IL-6 concentration in group 1 and between IL-6 and IL-8 serum concentration and IOP in controls. Conclusions: Latanoprost and timolol-dorzolamide therapy were not associated with significant differences in aqueous humor or serum IL-6 and IL-8 concentrations in patients with PEXG. IL-1β, IL-10, IL-12p70, and TNF-α were not detectable in the analyzed samples. These findings support the presence of low-grade inflammation in patients with PEXG that does not differ according to the therapy administered. Corneal endothelial alterations are disease-related rather than treatment-induced.

Background/Objectives: Our objective was to compare clinical outcomes of the Hydrus® Microstent implantation combined with cataract surgery in eyes with pseudoexfoliation glaucoma (PXG) and primary open angle glaucoma (POAG). Methods: This retrospective, single-center comparative cohort study included eyes with POAG or PXG undergoing combined cataract surgery and Hydrus® Microstent implantation between June 2021 and December 2025 at the University Eye Hospital of the Ludwig Maximilian University in Munich, Germany. Clinical outcomes were evaluated until 8-14 months after surgery. Results: A total of 74 eyes were included, comprising 49 POAG eyes and 25 PXG eyes. After cataract surgery plus Hydrus® Microstent, IOP decreased significantly in both groups from baseline to the final 8-14-month follow-up (POAG: 17.6 ± 3.9 to 13.8 ± 2.3 mmHg, p < 0.0001; PXG: 19.2 ± 4.3 to 14.6 ± 2.7 mmHg, p < 0.0001). The magnitude of IOP reduction did not differ between groups (p = 0.410). Meanwhile, the number of IOP-lowering medications decreased significantly in both groups with no between-group difference (POAG: -1.20 medications; PXG group -1.09 medications, p = 0.724). Surgical success rates were comparable. Conclusions: Hydrus® Microstent implantation combined with cataract surgery showed comparable surgical outcomes in POAG and PXG eyes. Regardless of the more aggressive disease characteristics of PXG, no significant differences were observed between PXG and POAG eyes regarding IOP reduction, medication burden, BCVA, surgical success, complications or safety outcomes. These findings suggest that combined cataract surgery and Hydrus® Microstent implantation may be a useful treatment option in selected patients with PXG.

Background/Objectives: To compare the visual outcomes between two extended depth-of-focus intraocular lenses (EDOF IOLs) in an Asian population. Methods: This retrospective single-center study included patients with senile cataract undergoing cataract surgery with implantation of either TECNIS PureSee or AcrySof IQ Vivity IOL. Visual and refractive outcomes such as visual acuity (VA), manifest refraction, and mean refractive spherical equivalent were compared up to post-operative month 6. Contrast sensitivity and defocus curves were evaluated monocularly, as well as binocularly if both eyes had the same IOL implanted. Results: Forty-nine eyes were evaluated-24 implanted with PureSee and 25 implanted with AcrySof IQ Vivity. The follow-up period was 6.4 ± 1.1 months in the PureSee group and 6.4 ± 1.0 months in the Vivity group (p = 1.0). There was no significant difference in postoperative visual outcomes at postoperative month 1 or 6. At post-operative month 6, unaided distance VA was 0.06 ± 0.10 and 0.08 ± 0.14 in the PureSee and Vivity groups, respectively (p = 0.519); unaided intermediate VA was 0.21 ± 0.05 and 0.18 ± 0.09, respectively (p = 0.192); and unaided near VA was 0.38 ± 0.12 and 0.38 ± 0.12, respectively (p = 0.842). Defocus and contrast sensitivity performance were broadly similar, except for Vivity's defocus being marginally better at 66 cm intermediate distance. At post-operative month 1, 69.2% of Vivity patients (n = 13) and 75.0% of PureSee patients (n = 4) denied haloes or glare. Conclusions: Both EDOF IOLs demonstrated comparable visual performances.

Background: Infantile dilated cardiomyopathy (DCM) is uncommon but carries substantial mortality, particularly when accompanied by neurological, ocular, or metabolic abnormalities. Long-Olsen-Distelmaier syndrome is a rare mTORopathy caused by heterozygous gain-of-function variants in RRAGC and may include cortical malformations, congenital cataracts, mineral disturbances, and early-onset DCM. Case Summary: We describe a term male infant born to consanguineous parents with hypocalcemia and hyperphosphatemia, bilateral frontoparietal polymicrogyria, bilateral congenital lamellar cataracts, small patent ductus arteriosus and ventricular septal defect, and initially preserved biventricular function. At 53 days of age, he developed cardiogenic shock, severe lactic acidosis, and hyperkalemia during a rhinovirus/enterovirus-positive respiratory illness. Echocardiography showed severe DCM with marked left ventricular dilatation and an ejection fraction of 27%. Despite multi-agent inotropic support, ventricular function did not recover, and he died at approximately two months. Accordingly, the contemporaneous clinical WES record documented a heterozygous RRAGC c.343T>C, p.(Trp115Arg) variant, reported by the diagnostic laboratory as likely pathogenic. The variant was subsequently standardized in this manuscript as NM_022157.4:c.343T>C, and an independent manuscript-level ACMG/AMP reassessment was concordant. Conclusions: Because p.(Trp115Arg) was previously reported, the principal contribution is detailed documentation of rapid progression from preserved neonatal ventricular function to fatal infantile DCM, while extending the clinical and geographic spectrum of RRAGC-related Long-Olsen-Distelmaier syndrome. Respiratory viral detection should be interpreted cautiously because myocarditis was not established; early exome-based testing should be considered in infants with cardiomyopathy and multisystem abnormalities.

PurposeTo determine preferred practice patterns for secondary intraocular lens (IOL) implantation in the absence of capsular support among Spanish ophthalmologists.MethodsCross-sectional study based on an anonymous online survey conducted in Spain. A 31-item questionnaire was distributed to members of the Spanish Society of Cataract and Refractive Surgery (SECOIR) and the Spanish Retina and Vitreous Society (SERV). It collected data on demographics, preferred surgical techniques, techniques abandoned and reasons for discontinuation, and management of predefined clinical scenarios.ResultsA total of 210 ophthalmologists completed the survey. 29.2% of ophthalmologists younger than 40 years reported no training on this topic during residency. For the management of aphakia without capsular support, 69% preferred delaying secondary IOL placement, mainly to obtain specific instruments or IOLs (83.3%). Complete pars plana vitrectomy was the preferred vitreous management technique (61%). The preferred first-line techniques were retropupillary iris-claw IOL implantation (33.3%), T-shaped harpoon scleral-fixated IOL implantation (28.6%), prepupillary iris-claw IOL implantation (15.2%), and the Canabrava technique (8.6%). Angle-supported anterior chamber IOLs and the Yamane technique were each selected by 3.3% of respondents.ConclusionsRetropupillary iris-claw IOL implantation was the preferred first-line option among Spanish ophthalmologists. Despite improved training among younger surgeons, nearly one third of ophthalmologists under 40 years still reported no formal training, suggesting persistent gaps in residency training.