BackgroundRetinoblastoma is the most common intraocular tumour in children. This study aimed to assess the visual outcomes and risk factors leading to visual impairment in children with retinoblastoma in the Indian population.MethodsThis is a single-centre retrospective analysis of all patients with unilateral or bilateral retinoblastoma presenting from the year 2014 to mid-2024.ResultsA total of 426 eyes in 306 patients were included in the study. 240 (78.43%) had unilateral macular tumours, while 45 (14.71%) had bilateral macular tumours. 29 (24.17%) patients were classified as visually impaired, and 22 (18.33%) patients were legally blind. The visual impairment and legal blindness observed in groups D and E (55.18% vs 68.18%) was statistically significant compared with groups A–C, with a p value of <0.05. Visual impairment and legal blindness were noted in only 27.59% and 0.05% of patients without macular tumours. Three patients had motor and speech delay. Out of 120 patients with bilateral tumour, 45 successfully underwent occlusion therapy.ConclusionMacular involvement and late-stage presentation were major predictors of poor vision. This study underscores the importance of early diagnosis and treatment, and improved access to paediatric vision screening and visual rehabilitation.

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Dietary omega-3 polyunsaturated fatty acids as a protective factor of myopia: the Hong Kong Children Eye Study

Zhang, Xiu Juan; Zhang, Yuzhou; Zhang, You Juan; Yu, Jun; Tang, Fang Yao; Li, Yi; Yeung, Suey; Kam, Ka Wai; Agrawal, Kunal; Loh, Nicholas Chieh; Ip, Patrick; Wong, Ian CK; Zhang, Wei; Young, Alvin L; Tham, Clement C; Pang, Chi Pui;

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Safety and vision outcomes of subretinal gene supplementation therapy in PDE6A-associated retinitis pigmentosa: a non-randomised controlled trial

Reichel, Felix F; Fischer, M Dominik; Stingl, Katarina; Kuehlewein, Laura; Seitz, Immanuel; Peters, Tobias; Ziegler, Melanie; Wilhelm, Barbara; Kohl, Susanne; Weisschuh, Nicole; Martus, Peter; Seeliger, Mathias; Muehlfriedel, Regine; Paquet-Durand, Francois; Tsang, Stephen H; Bartz-Schmidt, Karl Ulrich; Ueffing, Marius; Zrenner, Eberhart;

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Clinical characteristics and visual outcome of patients with macular pseudohole

Shioda, Kayano; Kubota, Noriko; Miyata, Kazunori; Mori, Yosai; Nakano, Yuji; Kunishige, Tomoyuki; Goto, Hitoshi; Okamoto, Fumiki

2025 British Journal of Ophthalmology

doi: 10.1136/bjo-2025-327808pmid: 40784743

PurposeTo evaluate clinical features and visual outcomes in macular pseudohole (MPH) and to investigate associations between visual acuity and optical coherence tomography (OCT) parameters in patients with MPH.MethodsWe retrospectively reviewed consecutive patients with MPH who underwent vitrectomy and were followed for at least 6 months after surgery. MPH was diagnosed based on spectral-domain OCT findings. Analysed factors included axial length, spherical equivalent, overlapping cases of epiretinal membrane foveoschisis (ERM-FS) and lamellar macular hole (LMH), presence of glaucoma, preoperative and postoperative best-corrected visual acuity (BCVA), presence of inner and outer retinal cysts, epiretinal proliferation (EP) and ellipsoid zone (EZ) disruption.ResultsThis study enrolled 76 eyes of 75 patients, with overlapping cases that included MPH+ERM FS (17 eyes), MPH+LMH (18 eyes) and MPH+ERM FS + LMH (3 eyes). BCVA significantly improved from 0.29±0.25 preoperatively to 0.06±0.17 postoperatively (p<0.001). Preoperative BCVA and the presence of EP exhibited significant associations with worse postoperative BCVA (p<0.0005 and p<0.05, respectively). Presence of EZ disruption at 3 and 6 months postoperatively was associated with worse postoperative BCVA (p<0.001 and p<0.01, respectively).ConclusionThere was significant improvement in patients with MPH after undergoing surgery. Current results suggest preoperative poor visual acuity, preoperative presence of EP and postoperative EZ disruption are negative prognostic factors for visual outcomes.

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Evaluation of visual function and OCT parameters in ethambutol-induced optic neuropathy: a longitudinal study

Sachdeva, Gaurav; Dhiman, Rebika; Raj, Dharam; Lavanya, Gandepalli; Mohan, Anant; Pujari, Amar; Phuljhele, Swati; Saxena, Rohit

2025 British Journal of Ophthalmology

doi: 10.1136/bjo-2025-327475pmid: 40854737

AimsTo evaluate structural and visual functional parameters in ethambutol-related toxic optic neuropathy (EON).MethodsIn this prospective study, we recruited 95 adults with EON presenting within 1 month of onset and 100 age-matched healthy controls. Best-corrected visual acuity (Early Treatment Diabetic Retinopathy Study chart), colour vision (Ishihara pseudoisochromatic plates), contrast sensitivity (Pelli-Robson chart), Humphrey visual field analysis (HVF 30–2 Swedish Interactive Threshold Algorithm-FAST), visual evoked response and spectral domain optical coherence tomography for macular ganglion cell-inner plexiform layer (mGC-IPL), retinal nerve fibre layer (RNFL) and papillomacular bundle (PMB) analyses were done at baseline, 3 months and 6 months.ResultsAlmost 52% eyes showed significant visual improvement of ≥ 2 Snellen lines after stopping the drug. RNFL (cases-100.84±21.87 µm vs controls-98.05±7.21 µm; p=0.37) and PMB thickness (cases-51.10±17.26 µm vs controls-53.45±6.42 µm; p=0.19) in cases were comparable with controls at baseline, but showed significant thinning at 6 months follow-up (RNFL −83.77±21.06 µm; PMB-30.96±11.02 µm; p<0.0001 for both). Average GC-IPL thickness (cases-29.66±6.86 µm; controls-39.68±2.59 µm) and ganglion cell-inner plexiform layer (GCL) volume (cases-0.85±0.17 mm3; controls-1.08±0.069 mm3) was significantly less as compared with controls (p<0.0001 for all) at baseline and showed significant further deterioration on follow-up (p<0.001 for all). The average GC-IPL thickness (p value :<0.0001, r:−0.31), GCL volume (p value :<0.000, r:−0.29) and PMB thickness (p value :0.043, r:−0.14) showed a significant negative correlation with final vision at 6 months.ConclusionProgressive structural damage despite visual improvement raises concern about the irreversible nature of EON. PMB, GC-IPL thickness and GCL volume are better predictors of visual recovery in EON.

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Association of serum 25-hydroxyvitamin D with cataract: a cross-sectional and longitudinal analysis of the UK Biobank

Peng, Yu; Zhang, Yuzhou; Kam, Ka Wai; Ho, Mary; Au, Sunny Chi Lik; Zhang, Xiujuan; Ng, Mandy P H; Ip, Patrick; Young, Alvin L; Pang, Chi-Pui; Tham, Clement C; Chen, Li Jia; Yam, Jason C

2025 British Journal of Ophthalmology

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Association between early lesion response and long-term anti-VEGF injection frequency in nAMD: a 2-year prospective study using 3D volumetric analysis

Pu, Jiaxin; Zhuang, Xuenan; Li, Miaoling; Zhang, Xiongze; Ji, Yuying; Mi, Lan; Hao, Xinlei; He, Guiqin; Su, Yongyue; Gan, Yuhong; Zhang, Yining; Chen, Xuelin; Wen, Feng

2025 British Journal of Ophthalmology

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Disease-specific and overall survival for patients with lacrimal gland adenoid cystic carcinoma in recent decades

Esmaeli, Bita; Li, Zhouxuan; Lu, Tracy J; Goldberg, Hila; Ning, Jing; Debnam, James Matthew; Frank, Steven Jay; Ferrarotto, Renata

2025 British Journal of Ophthalmology

doi: 10.1136/bjo-2025-327745pmid: 40866108

PurposeTo evaluate the presenting symptoms, and the overall survival (OS) and disease-specific survival (DSS) in patients with lacrimal gland adenoid cystic carcinoma (LGACC).MethodsThis retrospective single-centre cohort study included all consecutive patients with LGACC treated by the primary author from November 1998 through August 2024. Demographic data, presenting symptoms, the histological subtype of LGACC, type of surgical treatment, adjuvant radiotherapy or chemotherapy, T category at presentation and survival data were reviewed. Correlations between histological subtypes, T-category, type of surgery (eye sparing vs orbital exenteration), and DSS and OS were analysed.Results52 patients had a median age of 43.5 years (range: 9–71). Pain was the most common symptom but was only present in 17 patients (33%), 26 patients (50%) had orbital exenteration and 25 (48%) had eye-sparing surgery. Eye-sparing surgery was offered to selected patients only since 2007. Overall, 47 patients (90%) had postoperative radiotherapy and 18 patients (35%) developed distant metastasis. At last contact, 14 patients (27%) had died of disease (median follow-up=60 months). The 5-year and 10-year DSS rates for patients who had eye-sparing surgery (87.1% and 76.2%, respectively) were better than for patients who had orbital exenteration (62.3% and 57.5%, respectively, p=0.049). There was a significant difference between the DSS for basaloid (solid) versus non-basaloid histologic subtypes with a worse survival for basaloid histology (p=0.00057).ConclusionsPain was present in only one-third of patients with LGACC. The 5-year and 10-year DSS and OS rates are better than previously reported ‘historic data’.

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Ophthalmology JAMA Ophthalmology Cornea Journal of Glaucoma International Ophthalmology Journal of Ophthalmology International Ophthalmology Clinics Strabismus British Journal of Visual Impairment International Journal of Retina and Vitreous

Chen, Li Jia;

Yam, Jason C

2025 British Journal of Ophthalmology

doi: 10.1136/bjo-2024-326872pmid: 40829948

PurposeTo evaluate the associations between omega-3 polyunsaturated fatty acids (ω-3 PUFAs) and other dietary factors with myopia.MethodsA total of 1005 Chinese children, aged from 6 to 8 years, from a population-based Hong Kong Children Eye Study, were included in the analysis. Diet was assessed using a validated food-frequency questionnaire. Cycloplegic spherical equivalent (SE) refraction was assessed with an autorefractometer, and axial length (AL) by an IOL Master.ResultsAL was longest in the lowest quartile group of ω-3 PUFAs intake, compared with the highest (adjusted mean (95% CI), 23.29 (23.17 to 23.40) mm vs 23.08 (22.96 to 23.19) mm, p=0.01; p-trend=0.02) after adjusting for age, sex, body mass index, near-work time, outdoor time, and parental myopia history. The corresponding trends were observed in SE (−0.13 (−0.32 to 0.07) D in the lowest and 0.23 (0.03 to 0.42) D in the highest quartile groups, p=0.01; p-trend=0.01). In contrast, AL was longest in the highest quartile group of saturated fatty acids (SFA) intake, compared with the lowest (23.30 (23.17 to 23.42) mm vs 23.13 (23.01 to 23.24) mm, p=0.05; p-trend=0.04). The corresponding trends were observed in SE (−0.12 (−0.33 to 0.09) D in the highest and 0.13 (-0.04 to 0.31) D in the lowest quartile group, p=0.06; p-trend=0.04). A lower intake of ω-3 PUFAs was associated with myopia (p-trend=0.006). None of the other nutrients were associated with SE or AL or myopia.ConclusionsIntake of ω-3 PUFAs is a protective factor against myopia, while higher SFA intake is a risk factor. Our findings indicated a possible effect of diet on myopia, of which ω-3 PUFAs intake may play a protective role against myopia development in children.

Biel, Martin;

Wissinger, Bernd;

Michalakis, Stylianos

2025 British Journal of Ophthalmology

doi: 10.1136/bjo-2024-326480pmid: 40825661

Purpose PDE6A-associated retinitis pigmentosa (RP) is a rare inherited retinal disease leading to severe vision loss and blindness, with no available treatment. This study assessed the safety and vision outcomes of a gene therapy using an adeno-associated virus (AAV) vector encoding PDE6A (AAV8.hPDE6A).MethodsIn an open-label, non-randomised controlled phase I/IIa trial, nine patients with biallelic PDE6A variants received a single subretinal injection of AAV8.hPDE6A. Doses were either 1.0×10¹⁰ (n=6) or 5.0×10¹⁰ (n=3) total vector genomes. Safety was the primary endpoint, assessed via clinical examinations, laboratory analyses and optical coherence tomography imaging. Secondary outcomes included changes in visual function, such as best corrected visual acuity (BCVA), contrast sensitivity, colour perception, dark adaptation thresholds, visual fields, patient-reported outcomes and chromatic pupil campimetry over 1 year.ResultsThe mean patient age was 40.1 years, with baseline BCVA ranging from 40 to 82 letters (0.9–0.1 logMAR). No systemic adverse events occurred, and most ocular events resolved without treatment. Persistent adverse events included small peripheral atrophic areas (n=2), disturbed colour discrimination (n=3), cataract (n=1), slight central retinal thinning (n=5) and moderate visual acuity loss (n=2, 1 in each dose group). BCVA, full-field stimulus thresholds and other visual function measures showed statistically non-significant changes, with a trend towards worsening of retinal sensitivity in the treated eyes.ConclusionSubretinal gene therapy with AAV8.hPDE6A did not improve visual function over 1 year and posed risks, including central retinal thinning and visual acuity decline. This is in contrast to the safety and efficacy profile established in preclinical models.

doi:

10.1136/bjo-2024-326716

pmid:

40825660

BackgroundThe association between vitamin D deficiency and cataract is debated, with limited longitudinal data on serum 25-hydroxyvitamin D (25(OH)D) levels in cataract development. This study aimed to examine both cross-sectional and longitudinal associations between serum 25(OH)D concentrations and cataract risk.MethodsThe cross-sectional analyses included 442 255 UK Biobank participants with available serum 25(OH)D data. For longitudinal analyses, 427 923 participants without baseline cataract were assessed. Logistic regression models and Cox proportional hazards models were conducted to evaluate the associations between serum 25(OH)D concentrations and cataract risk.ResultsIn the cross-sectional analyses, higher serum 25(OH)D quartiles were inversely associated with cataract risk (p for trend <0.001). Longitudinal analyses, with a mean follow-up of 10.8 years, showed significant associations between vitamin D deficiency and increased incident cataract risk (HR 1.11, 95% CI 1.07 to 1.15). Compared with the reference group (50–75 nmol/L), participants with severe vitamin D deficiency (<25 nmol/L) had a 27% (HR 1.27, 95% CI 1.07 to 1.49), 12% (HR 1.12, 95% CI 1.04 to 1.21) and 9% (HR 1.09, 95% CI 1.04 to 1.14) higher risk of developing cataract among individuals below 50, 50–60 and above 60 years, respectively.ConclusionsThe study identified significant cross-sectional and prospective associations between vitamin D deficiency and increased cataract risk, with younger individuals being more susceptible. These findings emphasise the importance of early monitoring and intervention to address vitamin D deficiency and mitigate cataract risk.

10.1136/bjo-2025-327339

pmid:

40812795

PurposeTo explore the association between early response of different lesions and the number of anti-vascular endothelial growth factor (anti-VEGF) injections in neovascular age-related macular degeneration (nAMD).MethodsThis prospective study included treatment-naïve nAMD eyes with a 2-year follow-up period. Volumetric changes of multiple lesions during the loading phase were documented, including subretinal fluid (SRF), intraretinal fluid (IRF), vascular subretinal hyper-reflective material (vSHRM) and avascular subretinal hyper-reflective material, fibrovascular pigment epithelial detachment and serous pigment epithelial detachment (sPED) and total lesion. Imaging biomarkers associated with treatment frequency were analysed for 1-year and 2-year periods.ResultsA total of 92 eyes (92 patients) were included, with a mean age of 65.77±7.28 years. During the loading phase, all lesions except vSHRM showed significant temporal changes (p<0.05). Multivariate regression revealed that greater SRF changes at month 3 and IRF changes at month 1 were associated with increased injection frequency for both 1-year (β=0.353 and 0.360, p=0.025 and 0.022) and 2-year periods (β=0.336 and 0.293, p=0.004 and 0.026). Conversely, greater changes in vSHRM and sPED at month 2 were associated with fewer first-year injections (β=−0.307 and −0.697, p=0.023 and 0.022), while sPED changes at months 2 and 3 correlated with reduced 2-year requirements (β=−0.845 and −0.297, p=0.005 and 0.031).ConclusionEnhanced absorption of SRF and IRF during early treatment was associated with increased injection frequency, while greater absorption of vSHRM and sPED correlated with reduced treatment requirements.Trial registration numberChiCTR2200063428.