Retina-The Journal of Retinal and Vitreous Diseases最新文献

Purpose: To evaluate the prevalence of achromatopsia (ACHM) associated with variants of RPGRIP1, especially c.2710+374_2895+78del (RPGRIP1-ex18-DEL), and to confirm that these phenotypes were consistent with ACHM in Japanese patients.

Methods: This retrospective observational study involved a review of medical records from 52 patients across 47 Japanese families; all clinically diagnosed with ACHM.

Results: Causative variants for ACHM were identified in 39 families via whole-exome sequencing, whole-genome sequencing, or polymerase chain reaction: PDE6C (13 families), RPGRIP1-ex18-DEL (11 families), CNGA3 (11 families), CNGB3 (2 families), and GNAT2 (2 families). Patients with ACHM associated with RPGRIP1-ex18-DEL variants did not exhibit significant difference in phenotype, including spherical equivalent refractive error, best-corrected visual acuity (BCVA), fundus appearance, ellipsoid zone grading of optical coherence tomography, and fundus autofluorescence pattern, compared to those with variants in CNGA3 or PDE6C at baseline (all, P > 0.05). For five ACHM patients with RPGRIP1-ex18-DEL variants, no change in BCVA or ellipsoid zone grading was noted over a follow-up period of >10 years (all, P > 0.05).

Conclusions: Variants in RPGRIP1-ex18-DEL are unique hotspots with a high prevalence among Japanese patients with ACHM. Clinical findings in these patients are consistent with those in patients with ACHM from other causative genes.

Purpose: To compare the characteristics of pediatric patients with pars planitis (PP) who received treatment versus those who were observed without treatment.

Methods: Retrospective chart review of pediatric patients diagnosed with pars planitis at a tertiary referral center from 2000 to 2024.

Results: Out of 158 eyes from 84 patients with PP, 127 (80.4%) eyes received treatment, and 31 (19.6%) eyes were observed. Eyes that were observed presented with less anterior chamber cell (p<0.007), vitreous cell (p=0.0005), vitreous haze (p=0.003), and optic nerve head edema (p=0.03). The untreated group had significantly lower total fluorescein angiography (FA) scores (p<0.0001) than the treated group and specifically scored lower in disc leakage (p=0.006) and retinal capillary leakage (p<0.0001). In the treated group, 66 (52%) eyes developed ocular hypertension and 24 (18.9%) developed glaucoma, whereas the untreated group had no cases of either. Final visual acuity was similar between treated and untreated groups (20/32 vs 20/25, p=0.13), and no untreated eyes developed complications requiring surgery.

Conclusion: Not all patients with pediatric PP require treatment. Select mild cases may be safely observed without developing sequelae of chronic inflammation. Proper identification of these patients can reduce side effects and medication burden.

Purpose: This cross-sectional study explored the association between sleep deprivation and epiretinal membrane (ERM) using machine learning applied to data from the Korean National Health and Nutrition Examination Survey 2017-2020.

Methods: Data from 2018-2020 were used for training and internal validation, and from 2017 for external validation. Participants were divided into ERM and non-ERM groups, and their sociodemographic, lifestyle, and clinical characteristics were assessed. Sleep deprivation was defined as sleeping <6 h on weekdays. Machine learning-based logistic regression was used to model the association between sleep deprivation and ERM, adjusting for confounders. The consistency of the results and importance of each feature were assessed using subgroup analyses and Shapley additive explanations.

Results: Data from 15,240 participants were included, with an ERM prevalence of 9.59%. The final adjusted model achieved an area under the ROC curve of 0.763 (95% CI 0.733-0.792) in external validation. Sleep deprivation was significantly associated with increased ERM risk (adjusted odds ratio [OR], 1.247; 95% CI 1.051-1.481), particularly among non-high-risk alcohol consumers (OR 1.216; 95% CI 1.057-1.399) and individuals with diabetes mellitus (OR 1.259; 95% CI 1.069-1.481). Sleep deprivation was the fourth most influential predictor (5.3%), following age, cataract surgery, and dyslipidaemia.

Conclusions: Sleep deprivation was significantly associated with a 1.25-fold increase in the prevalence of ERM, especially among non-high-risk alcohol consumers and those with diabetes. Weekday sleep deprivation may be a modifiable risk factor for ERM. Prospective studies are warranted to confirm causality and explore the underlying mechanisms.

Purpose: To characterize the imaging features of choroiditis across different disease stages using the blend function in ultra-widefield imaging (UWFI) and compare its findings with fundus autofluorescence (FAF).

Methods: This study included 30 patients ( 25 eyes) with choroiditis, categorized into active, resolving, and healed stages. UWFI images were analyzed using the red and green channels to assess specific imaging characteristics at each disease stage. FAF findings were compared to evaluate disease activity and progression.

Results: Active choroiditis lesions were distinctly visualized on the green channel with well-defined inflammatory borders, whereas the red channel showed faintly discernible lesions without clear margins. FAF revealed diffuse hyperautofluorescence but lacked precise border delineation. In the resolving stage, lesion hyperintensity progressively diminished on the green channel, while red channel visibility decreased significantly. FAF changes were subtle, with reduced autofluorescence intensity. Healed lesions exhibited isointense areas on the green channel with well-defined borders, while hyperpigmented regions appeared as hypointense patches on the red channel. FAF showed uniformly dark zones corresponding to healed areas. Retinal vascular abnormalities were more prominently detected on the green channel compared to other imaging modalities.

Conclusion: The blend function in UWFI offers a novel, stage-wise characterization of choroiditis, with the green channel providing superior delineation of active inflammatory lesions compared to FAF. The red channel serves as an adjunct in assessing disease resolution. This imaging approach enhances diagnostic accuracy and facilitates objective disease monitoring, potentially improving clinical decision-making in inflammatory chorioretinal disorders.

Purpose: To assess the diagnostic value of tomographic signs on OCT and OCT-A, particularly paracentral acute middle maculopathy (PAMM), in predicting temporal artery biopsy (TAB) positivity in suspected giant cell arteritis (GCA), irrespective of ophtalmological involvement.

Methods: This prospective monocentric study included patients referred for TAB between January and October 2023. All underwent bilateral macular and optic nerve OCT and OCT-A using AngioPlex™ CIRRUS™ HD-OCT (Carl Zeiss Meditec). TAB-positive patients were considered biopsy-proven GCA. Primary analysis focused on the association between PAMM and TAB positivity. Secondary analysis explored vascular choroidal index (CVI), radial peripapillary capillaries (RPC), and OCT-A abnormalities.

Results: Among 70 patients, 22 (31%) had positive TAB. PAMM was observed exclusively in TAB+ patients (n=8), with specificity and positive predictive value of 100%. Sensitivity and negative predictive value were 38.1% and 77.6%, respectively. Homolateral anterior ischemic optic neuropathy (AION) was always associated with GCA. CVI and other OCT-A findings did not differ significantly between groups. RPC density was significantly reduced in eyes with ophthalmological involvement (p=0.017).

Conclusion: PAMM is a highly specific OCT sign of TAB positivity in suspected GCA. This non-invasive marker may support early therapeutic decisions in suspected GCA.

Purpose: To estimate the efficacy of intravitreal injection (IVI) VS subretinal injection (SRI) of tissue plasminogen activator (tPA) in the treatment of submacular hemorrhage (SMH).

Methods: A comprehensive literature search was conducted in six major datasets from inception to 31 October 2025. Random effects meta-analysis was performed to evaluate the final best-corrected visual acuity (BCVA, logMAR) and the changes in central retinal thickness (CRT, μm) and the risk ratio (RR) of complete displacement of hemorrhage.

Results: A total of 7 studies on 353 eyes were finally included. BCVA was similar between the IVI and SRI groups at 1 month and 6 months post-operation, while better in the IVI group 3 months postoperatively. The final CRT was similar between the two groups. There were no statistical differences between the two groups in the RRs of complete displacement of hemorrhage, total adverse events, recurrent SMH, increased IOP, postoperative retinal detachment and vitreous hemorrhages.

Conclusions: The IVI group showed a better BCVA at 3 months, the two groups showed comparable results in the recovery of BCVA, CRT and complete hemorrhage displacement at the final visit (within 6 months).

Purpose: To evaluate the clinical relevance of hyperreflective choroidal foci (HCF) and characterize their longitudinal alterations following treatment in patients with macular edema (ME) secondary to branched retinal vein occlusion (BRVO).

Methods: In this retrospective cohort study, we evaluated the data of 68 patients diagnosed with treatment-naïve BRVO-ME involving the fovea. HCF were quantified separately in the inner and outer choroidal layers within the central 4500 μm region of the fovea. Additionally, central macular and subfoveal choroidal thickness and integrity of the external limiting membrane (ELM) were analyzed.

Results: The HCF count decreased notably in the inner and whole choroidal layers after treatment, while outer choroidal HCF remained unchanged. Univariate and multivariate regression analyses revealed that a higher residual HCF count was associated with a greater required annual number of intravitreal injections and a briefer recurrence to ME. Spearman's analysis correlated higher baseline HCF counts with disrupted baseline ELM status. However, no significant correlation was observed between HCF counts and final best-corrected visual acuity.

Conclusions: HCF may dynamically indicate ongoing choroidal activity in BRVO. Their incomplete resolution following treatment correlates with earlier ME recurrence and greater treatment demand, indicating their potential role in guiding retreatment decisions and assessing disease activity.