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João Pedro Marques
This 51YO male has a history of intellectual developmental disorder, arterial hypertension, polydactyly of his right hand (surgery as a child) and foot. He has complained of poor vision, photophobia, and dyschromatopsia since childhood. Vision was 20/400 OU.
Optos color RG imaging of his right eye shows faint foveal pigmentary changes. These are more prominent on fundus autofluorescence (FAF), which shows increased foveal hyper-FAF with a surrounding ring of hyper-FAF. OCT scanning shows variable thinning of the outer retina and RPE centrally. Identical findings were noted in his left eye (not shown). A sixth toe is noted on his right foot.
Learning Points:
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy causing multisystem disease via primary cilia dysfunction (Shoemaker, Diabetes Obes 2024;26(Suppl. 2):25-33). Diagnosis is clinical, requiring four primary features (or three primary plus two secondary): rod-cone dystrophy, obesity, polydactyly, hypogonadism, renal anomalies, and learning disability. The defining ocular finding is progressive rod-cone dystrophy, with early night blindness, peripheral field loss, and macular involvement, accompanied by vascular attenuation, disc pallor, abnormal ERG, and blindness by early adulthood.
Our patient’s genetic testing revealed that he was homozygous for the pathogenic variant c.1169T>G p.(Met390Arg) in the BBS1 gene. Continued observation was recommended.
Ophthalmol Retina. 2026 Sep;10(9):966-974. doi: 10.1016/j.oret.2026.04.027.
COPERNICUS/GALILEO/VIBRANT post hoc Eylea for RVO ME: Longer time to starting treatment was followed by less VA improvement; worse baseline VA was associated with greater VA improvement, but worse final VA.
Objective: To examine the impacts of time since diagnosis of macular edema after central or branch retinal vein occlusion (MEfCRVO or MEfBRVO) to the first intravitreal aflibercept 2 mg injection (IAI) and baseline best-corrected visual acuity (BCVA) on visual and anatomic outcomes and to inform treatment decisions and management of physician and patient expectations.
Design: Post hoc analysis of 3 clinical trials.
Participants: Patients with MEfCRVO from COPERNICUS and GALILEO treated with IAI every 4 weeks, followed by as needed from week 24 to 100 (COPERNICUS) or 76 (GALILEO), and patients with MEfBRVO from VIBRANT treated with IAI every 4 weeks, followed by every 8 weeks from week 24 to 52.
Methods: Patients were grouped by time from initial MEfCRVO/MEfBRVO diagnosis to first IAI, <1, 1 to 3, or >3 months (COPERNICUS/GALILEO), and <1 or ≥1 month (VIBRANT). Main outcome measures: Impact of baseline BCVA was evaluated by tertiles: T1, ≤44; T2, >44 to ≤58; T3, >58 letters (COPERNICUS); T1, ≤47; T2, >47 to ≤65; T3, >65 letters (GALILEO); and T1, ≤55; T2, >55 to ≤64; and T3, >64 letters (VIBRANT).
Results: In COPERNICUS, 113 patients initiated IAI at <1 (n = 44; 38.9%), 1 to 3 (n = 33; 29.2%), or >3 months (n = 36; 31.9%) post-diagnosis; mean BCVA gains from baseline at week 24 were 19.8, 15.6, and 11.9 letters, respectively (mean [95% confidence interval] difference between <1- and >3-month groups: +7.9 [1.7-14.1]; P = 0.01). Central subfield thickness (CST) decrease from baseline at week 24 across time-since-diagnosis subgroups was -466.6, -456.4, and -479.2 μm, respectively. Least squares mean BCVA gains from baseline at week 100 were greater for baseline BCVA T1 versus T2/T3 (16.5 vs. 8.9/5.9 letters) but final BCVA was lower (49.8 vs. 60.9/71.2 letters, respectively). CST at week 100 was similar across T1 to T3 (243.8-291.5 μm, respectively). Outcomes were similar in GALILEO and VIBRANT.
Conclusion: In MEfCRVO/MEfBRVO, a longer time to IAI treatment initiation was followed by less visual improvement. Poor baseline BCVA was associated with greater visual improvement but worse final BCVA.
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