Purpose: The purpose of this study was to present our findings on the natural history of late-onset retinal degeneration (LORD) in patients with molecularly confirmed C1QTNF5 heterozygous pathogenic variants and assess suitability of retinal structure parameters for disease monitoring.
Methods: Sixteen patients with C1QTNF5-LORD were retrospectively identified from Moorfields Eye Hospital, UK. Fundus autofluorescence (FAF), optical coherence tomography (OCT) scans, and best-corrected visual acuity (BCVA) were collected.
Objectives: Bietti Crystalline Dystrophy (BCD) is an autosomal recessive progressive retinal disease caused by mutations in CYP4V2. We have characterised the natural history including structural and functional measures to identify potential outcome metrics for future clinical trials.
Methods: Molecularly-confirmed BCD patients with biallelic variants in CYP4V2 were retrospectively identified from Moorfields Eye Hospital (UK).
The gene plays a role in retinal development and its maintenance. When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone-rod dystrophy (CORD) and macular dystrophy (MD). Studies in retinopathies have shown thickening and coarse lamination of retinal layers resembling an immature retina.
View Article and Find Full Text PDFSince the introduction of silicone hydrogel contact lenses, many silicone-hydrogel materials have been produced, including water-gradient contact lenses with a silicone hydrogel core and a thin hydrogel outer layer (e.g., delefilcon A, verofilcon A, and lehfilcon A).
View Article and Find Full Text PDFX-linked retinitis pigmentosa (RP) is a severe form of RP, often with early macular involvement. This study aimed to characterise the natural history of patients with a diagnosis of X-linked RP due to RP2 mutations. Clinical details, best-corrected visual acuity (BCVA) and multimodal retinal imaging were retrospectively collected from patients with RP2 variants from Moorfields Eye Hospital (London, UK).
View Article and Find Full Text PDFPurpose: To assess how objectively detected defects in retinal nerve fiber bundle (RNFB) reflectance on en face OCT images relate to circumpapillary retinal nerve fiber layer thickness (cpRNFLT) and visual field defects.
Design: Cross-sectional study.
Participants: Sixteen participants with early glaucoma and 29 age-matched healthy controls, of whom 22 had usable en face images for the establishment of normative levels of RNFB reflectance.
Purpose: To introduce and evaluate the performance in detecting glaucomatous abnormalities of a novel method for extracting en face slab images (SMAS), which considers varying individual anatomy and configuration of retinal nerve fiber bundles.
Methods: Dense central retinal spectral domain optical coherence tomography scans were acquired in 16 participants with glaucoma and 19 age-similar controls. Slab images were generated by averaging reflectivity over different depths below the inner limiting membrane according to several methods.
Purpose: We present a subjective approach to detecting glaucomatous defects in enface images and assess its diagnostic performance. We also test the hypothesis that if reflectivity changes precede thickness changes in glaucoma there should be reduced correlation between the modalities in glaucoma compared to controls.
Methods: Twenty glaucoma participants and 20 age-matched controls underwent high-resolution OCT scans of one eye.
Purpose: Recent developments in optical coherence tomography (OCT) technology enable direct enface visualisation of retinal nerve fibre bundle (RNFB) loss in glaucoma. However, the optimum depth at which to visualise RNFBs across the retina is unknown. We aimed to evaluate the range of depths and optimum depth at which RNFBs can be visualised across the retina in healthy eyes.
View Article and Find Full Text PDFIntroduction: With increasing diabetes trends worldwide, morbidity, mortality and associated costs due to diabetes-related complications are a global public health concern. Diabetic retinopathy (DR) is among the leading causes of vision loss at the global level; accurate estimates of DR burden is of crucial importance for planning, implementing and evaluating DR prevention and care interventions.The available evidence on DR prevalence at the global level, dating back to 2008, only considered data from selected regions.
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