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Background We investigated the potential association between pathogenic BRCA1/2 variants and retinoblastoma pathogenicity. Methods In this single-centre, retrospective case series, we performed hereditary cancer panel tests using blood samples for patients with retinoblastoma diagnosed between March 2017 and October 2021. Bioinformatics prediction tools were then used to conduct in silico pathogenicity assessments for patients with BRCA1/2 family variants, in addition to the American College of Medical Genetics and Genomics (ACMG) variant classification. One patient with a germline BRCA1 variant was analysed with whole-genome sequencing (WGS), mutational signature analysis and methylation analysis for RB1 and BRCA using the patient's tumour and blood samples. Results Of 30 retinoblastoma patients who underwent panel sequencing, six (20%) were found to carry germline variants in the BRCA1/2 or BRIP1 genes. Among these six patients, two had pathogenic or likely pathogenic variants as per the ACMG variant classification. Additionally, three patients showed potential pathogenic BRCA1/2 family variants through further analysis with alternative bioinformatics prediction tools. In the WGS analysis of a tumour from a patient with a germline likely pathogenic BRCA1 variant in one allele, we observed the loss of one RB1 allele due to a large deletion. No somatic non-synonymous mutations or frameshift indels were detected in the RB1 locus of the remaining allele. This sample also showed BRCA1 gene promoter hypermethylation in the tumour, indicating additional epigenetic silencing. Conclusion This study demonstrated that some retinoblastoma patients harboured germline BRCA1/2 family variants, which may be associated with the development of retinoblastoma along with RB1 mutations. [ABSTRACT FROM AUTHOR]

Background To evaluate the association between retinal artery/arteriole occlusion (RAO) and unruptured intracranial aneurysm (UIA).Methods Incident UIA patients from a nationwide cohort (n=253 240) were categorised into three groups based on subsequent treatment: observation (n=208 993), microsurgical clipping (n=14 168) and endovascular treatment (EVT) groups (n=30 079). The incidence and the incident time of RAO were analysed. HRs of RAO and associated risk factors were evaluated. Additionally, a hospital cohort comprising 2569 consecutive UIA patients treated at a tertiary hospital was analysed with detailed clinical information of UIAs.Results In the nationwide cohort analysis, the incidence of RAO was significantly higher in EVT group than in observation and clipping groups, especially within 60 days (early RAO (within 60 days): HR=4.00, 95% CI: 2.44 to 6.56); delayed RAO (after 60 days): HR=1.74, 95% CI: 1.13 to 2.68). Multivariable analysis showed that the presence of chronic kidney disease (p=0.009) and use of a balloon microcatheter during the procedure (p=0.013) were associated with a higher risk of RAO. In hospital cohort analysis, 11 (0.8%) cases of RAO occurred after EVT, whereas none occurred after microsurgical clipping (p

Background/Aims To analyse intraocular pressure (IOP) changes over a period of 1 year after intravitreal dexamethasone (DEX, Ozurdex) implant injection and to compare the results with those of previously published studies that involved non-Asian populations. Methods A retrospective observational study was conducted. A total of 540 eyes of 503 patients who received DEX implant injection and were diagnosed with macular oedema (ME) due to various retinal diseases were examined. IOP was measured prior to injection and at 1 week, 1 month, 2 months, 3 months, 6 months and 12 months after DEX implant injection. IOP elevation was divided into four categories: postinjection IOP of >35 mm Hg, >30 mm Hg and >25 mm Hg, and an IOP elevation of >10 mm Hg, relative to the baseline measurement. Results The mean baseline IOP was 13.45±2.95. The mean IOP gradually increased until 2 months postinjection (IOP=16.85±5.96 mm Hg, p<0.001) and then gradually decreased until 12 months postinjection (IOP=13.80±4.04mm Hg, p=0.16). IOP was >25 mm Hg in 57 eyes (10.6%), >30mm Hg in 29 eyes (5.4%) and >35mm Hg in 9 eyes (1.7%); IOP exhibited >10 mm Hg elevation from the baseline IOP in 61 eyes (11.3%). Overall, the incidence rate of IOP elevation after DEX treatment was 12.6% (68 eyes). Among the 68 eyes (12.6%) with elevated IOP, 60 (11.1%) required treatment: 59 (10.9%) required IOP-lowering medication and 1 (0.2%) ultimately required surgical interventions. Conclusions The incidence of adverse IOP elevation requiring the prolonged use of IOP-lowering medication and surgical intervention after DEX implantation was significantly lower than the incidence reported in previous Western population-based studies. Intravitreal DEX injection may therefore be an effective and relatively safe treatment modality for ME in Asian patients. [ABSTRACT FROM AUTHOR]

Background/Aims: To compare the efficacy, anatomical outcomes and complications of intravitreal ranibizumab with those of laser photocoagulation for retinopathy of prematurity (ROP). Methods: This is a retrospective case series of 314 eyes from 165 infants diagnosed with type I ROP and treated with either laser photocoagulation (161 eyes) or intravitreal ranibizumab (0.25 mg/0.025 mL) injection (153 eyes) between January 2006 and December 2016 in a tertiary referral-based hospital. The main outcome was the rate of recurrence requiring additional treatment. Secondary outcomes included the incidence of major complications and final refractive error. Results: The mean follow-up was 36.3±31.9 months. Recurrences requiring further intervention were noted in 22 (13.7%) laser-treated and 15 (9.8%) ranibizumabtreated eyes (p=0.196). Retinal detachment (8 vs 1, p=0.037) and macular dragging (7 vs 1, p=0.039) were observed in the laser-treated and injectiontreated groups, respectively, but no systemic or neurodevelopmental adverse events were reported. In the ranibizumab group, 95.6% showed fully vascularised retinas. Multivariate analyses revealed that birth weight (OR 0.993, p=0.023) and higher ROP stage (OR 11.222, p=0.008) influenced the incidence of major complications. Conclusion: Intravitreal ranibizumab for ROP appears to achieve similar therapeutic effects than did laser photocoagulation, but with fewer surgical complications such as retinal detachment or macular dragging. [ABSTRACT FROM AUTHOR]

Background/aims To compare the functional and anatomical outcomes of intravitreal bevacizumab (IVB) with those of dexamethasone implant injection (IVD) for macular oedema associated with branch retinal vein occlusion (BRVO). Methods Seventy-two patients with centre-involving macular oedema secondary to BRVO were retrospectively enrolled in the study; these patients were treated with either 1.25 mg IVB (44 eyes; mean injections: 2.92 ±1.38) pro re nata (PRN) by follow-up monthly or 700 mg IVD (28 eyes; mean injections: 1.71±0.47) given at 6-month intervals PRN and were followed for at least 12 months. Main outcome measures were changes in best-corrected visual acuity (BCVA) and central foveal thickness (CFT). Results There was no statistically significant difference of mean change of the logarithm of the minimum angle of resolution BCVA between IVB and IVD groups at monthly visits, up to 12 months (all p>0.05); however, there was a trend towards greater BCVA gain in the IVB group than in the IVD group at 6 months ( p=0.053). Additionally, 52.6% in the IVB group and 50% in the IVD group gained two or more lines of Snellen visual acuity at 12 months ( p=0.85). The mean CFT decreased by 160 μm for the IVB group and by 140.7 mm for the IVD group at 12 months. Both the IVB group and the IVD group achieved statistically similar improvement of CFT at monthly visits, up to 5 months (all p>0.05); however, the CFT began to deteriorate after 5 months in the IVD group, and at 6 months, improvement in the IVB group was significantly greater than that in the IVD group ( p=0.007). After a second IVD injection at 6 months, the IVD group showed significant improvement of CFT, and there was no significant difference of CFT change between the IVB and IVD groups until 12 months. Conclusions For macular oedema secondary to BRVO, IVB administered PRN monthly and IVD administered PRN at 6-month intervals, yielded functionally and anatomically comparable outcomes at 12 months. [ABSTRACT FROM AUTHOR]