A5079205986- Retinal Imaging and Analysis
- Retinal Diseases and Treatments
- Glaucoma and retinal disorders
- Retinal Development and Disorders
- Retinal and Macular Surgery
- Retinal and Optic Conditions
- Neuroscience and Neuropharmacology Research
- Acute Ischemic Stroke Management
- Polydiacetylene-based materials and applications
- Optical Coherence Tomography Applications
- Ophthalmology and Visual Health Research
- melanin and skin pigmentation
- Photoreceptor and optogenetics research
- Adhesion, Friction, and Surface Interactions
- Ocular Surface and Contact Lens
Moorfields Eye Hospital NHS Foundation Trust
2022-2023
Moorfields Eye Hospital
2023
University College London
2022-2023
University of Bradford
2020-2022
University of Parma
2019
Retinal dehydrogenase 12 (RDH12) is a photoreceptor NADPH-dependent retinal reductase enzyme, converting all-trans-retinal to all-trans-retinol. Heterozygous variants in RDH12 cause rare autosomal dominant (AD) retinitis pigmentosa. As no disease models exist, we generated human induced pluripotent stem cell-derived organoids (RO) from an RDH12-AD patient (with pathogenic variant c.759del, p.Phe254Leufs*24) alongside healthy, unaffected control. RO exhibited correct localization of the inner...
The CRB1 gene plays a role in retinal development and its maintenance. When disrupted, it gives range of phenotypes such as early-onset severe dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone-rod dystrophy (CORD) macular (MD). Studies retinopathies have shown thickening coarse lamination layers resembling an immature retina. Its foveal has not yet been described; however, this retrospective study is the first to report hypoplasia (FH) presence CRB1-related...
Abstract 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 were retrospectively identified from Moorfields Eye Hospital (UK). Clinical details results of molecular genetic testing,...
Recent developments in optical coherence tomography (OCT) technology enable direct enface visualisation of retinal nerve fibre bundle (RNFB) loss glaucoma. However, the optimum depth at which to visualise RNFBs across retina is unknown. We aimed evaluate range depths and can be visualised healthy eyes.The central ± 25° 10 eyes from people aged 57-75 years (median 68.5 years) were imaged with spectral domain OCT. Slab images maximum axial resolution (4 μm) containing depth-resolved...
Purpose: We present a subjective approach to detecting glaucomatous defects in enface images and assess its diagnostic performance. also test the hypothesis that if reflectivity changes precede thickness glaucoma there should be reduced correlation between modalities compared controls. Methods: Twenty participants 20 age-matched controls underwent high-resolution OCT scans of one eye. 4 µm-thick slabs were constructed through retina. Enface indices depths first gap visible retinal nerve...
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 configuration retinal nerve fiber bundles.Dense central spectral domain optical coherence tomography scans were acquired 16 participants with glaucoma 19 age-similar controls. Slab generated by averaging reflectivity over different depths below inner limiting membrane according to several methods. SMAS...
X-linked retinitis pigmentosa (RP) is a severe form of RP, often with early macular involvement. This study aimed to characterise the natural history patients diagnosis RP due RP2 mutations. Clinical details, best-corrected visual acuity (BCVA) and multimodal retinal imaging were retrospectively collected from variants Moorfields Eye Hospital (London, UK). Measures ellipsoid-zone (EZ) width, central thickness (CRT), photoreceptor pigment epithelium complex (PR+RPE, taken between external...
Purpose: The purpose of this study was to present our findings on the natural history late-onset retinal degeneration (LORD) in patients with molecularly confirmed C1QTNF5 heterozygous pathogenic variants and assess suitability structure parameters for disease monitoring. Methods: Sixteen C1QTNF5-LORD were retrospectively identified from Moorfields Eye Hospital, UK. Fundus autofluorescence (FAF), optical coherence tomography (OCT) scans, best-corrected visual acuity (BCVA) collected. Area...
Abstract Retinal dehydrogenase 12 (RDH12) is a photoreceptor NADPH-dependent retinal reductase enzyme, converting all- trans -retinal to -retinol. Heterozygous variants in RDH12 cause rare autosomal dominant (AD) retinitis pigmentosa. As no disease models exist, we generated human induced pluripotent stem cell derived organoids (RO) from RDH12- AD patient (with pathogenic c.759del p.(Phe254Leufs*24) variant), alongside healthy control (WT). RO exhibited correct localisation of the inner...
To assess how objectively detected defects in retinal nerve fiber bundle (RNFB) reflectance on en face OCT images relate to circumpapillary layer thickness (cpRNFLT) and visual field defects.Cross-sectional study.Sixteen participants with early glaucoma 29 age-matched healthy controls, of whom 22 had usable for the establishment normative levels RNFB reflectance.All underwent cpRNFLT scans, examination, wide-field OCT. En reflectivity was assessed using Summary Multiple Anatomically Adjusted...
Italian optometrists refract patients and prescribe optical appliances. The routine optometric examination that is currently conducted in Italy, however, does not include a comprehensive ocular health assessment. Like many other countries, Italy ophthalmologists are solely responsible for the diagnosis treatment of pathologies, yet, care an optometrist provides must be done with aim promoting general seen practice. Such scope has to pursued using close collaboration ophthalmologists,...