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PURPOSE: To describe the clinical and genetic features, and explore the natural history of retinopathy associated with IQCB1 variants in children and adults with retinopathy. DESIGN: Retrospective cohort study at a single tertiary care referral center. METHODS: The study recruited 19 patients with retinopathy, harboring likely disease-causing variants in IQCB1. Demographic data and clinical presentation, best corrected visual acuity (BCVA), fundus appearance, optical coherence tomography (OCT) and autofluorescence features, electroretinography (ERG) and molecular genetics are reported. RESULTS: Ten patients had best corrected visual acuity better than 1.0 LogMAR, and BCVA remained stable till the last review. Seven patients had a vision of hand movements or worse in at least one eye at presentation. There was no correlation found between age of onset and severity of vision loss. Nine patients (47.4%) had a diagnosis of end-stage renal failure at presentation. The other 10 patients (52.6%) had a diagnosis of non-syndromic IQCB1-retinopathy and maintained normal renal function until the last follow-up. The mean age at diagnosis of renal failure was 26.3 ±19.8 years. OCT showed ellipsoid zone (EZ) disruption with foveal sparing in 8/13 patients. All patients had stable OCT findings. Full-field ERGs in four adults revealed a severe cone-rod dystrophy and three children had extinguished ERGs. We identified 17 IQCB1 variants, all predicted to cause loss of function. CONCLUSION: IQCB1-retinopathy is a severe early-onset cone-rod dystrophy. The dissociation between severely decreased retinal function and relative preservation of retinal structure over a wide age window makes the disease a candidate for gene therapy.
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PURPOSE: Faricimab, a novel pharmaceutical agent targeting both angiopoietin-2 and vascular endothelial growth factor-A pathways, has gained approval for treating neovascular age-related macular degeneration and diabetic macular oedema. While clinical trials have demonstrated its favorable safety profile, this research presents two cases of hypertensive uveitis following intravitreal Faricimab injections. METHODS: Medical history, clinical findings and multimodal images were retrospectively collected. RESULTS: The patients experienced elevated intraocular pressure, mutton-fat keratic precipitates, anterior and posterior segment inflammation shortly after faricimab administration. CONCLUSIONS: These cases prompt further investigation into the potential risk of uveitis associated with faricimab and underscore the importance of continued monitoring and research to elucidate its real-world safety profile.
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PURPOSE: To describe unusual clinical features and therapeutic management of a case of cytomegalovirus (CMV) ocular disease in a patient on immunomodulatory therapy. SETTING/VENUE: Moorfields Eye Hospital NHS Foundation Trust, London, UK. METHODS: Medical history, clinical findings, investigation results, and multimodal imaging were retrospectively collected. RESULTS: A 61-year-old, South-East Asian man, developed CMV-related endotheliitis and occlusive retinal vasculitis, diagnosed by wide-angle fluorescein angiography. No retinitis was present on the fundus examination. Suspicion of CMV etiology was based on anterior segment findings, especially the presence of coin-shaped endothelial lesions. The diagnosis was confirmed by aqueous polymerase chain reaction (PCR) analysis which was positive for CMV DNA. The combined use of topical and systemic valganciclovir resulted in significant improvement of the picture. CONCLUSIONS: CMV can manifest in the eye as occlusive retinal vasculitis without the presence of typical retinitis.
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PURPOSE: This study seeks to report the clinical and multimodal imaging findings of eight eyes of seven patients with neovascular age-related macular degeneration (nAMD) who developed bacillary layer detachment (BALAD). Setting/Venue: The patients were analysed at the Western Eye Hospital in London, UK. METHODS: The approaches of this research include clinical examinations and multimodal imaging-based description of cases of nAMD with BALAD. RESULTS: We report multimodal imaging findings of bacillary layer detachment (BALAD) in patients with nAMD. CONCLUSIONS: A bacillary layer detachment was detected in patients with neovascular age-related macular degeneration. This multimodal imaging finding is not commonly described in the literature for this disease.
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PURPOSE: To evaluate preliminarily the safety and efficacy of customized photorefractive keratectomy (PRK) to correct ametropia and irregular astigmatism after penetrating keratoplasty (PK). METHODS: This pilot study included five eyes of five patients with a mean spherical equivalent of -5.1±1.46D (range from -2.75 to -6.50D). In all cases, ametropia and irregular astigmatism was corrected with topography-guided customized PRK. Ocular examinations with topographic analysis were performed preoperatively as well as at 1, 3 and 6 months after surgery. RESULTS: All eyes gained postoperatively at least three Snellen lines of uncorrected visual acuity. Mean refractive spherical equivalent was 0.62±0.63D (range from -0.25 to -1.75D) at 6 months postoperatively. CONCLUSION: Our pilot study suggests that customized PRK can be a safe and effective method for treating ametropia and irregular astigmatisms after PK. Future studies with larger samples and longer follow-ups should be performed to confirm these results.