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An overview of human pluripotent stem cell applications for the understanding and treatment of blindness
Published in John Ravenscroft, The Routledge Handbook of Visual Impairment, 2019
Louise A. Rooney, Duncan E. Crombie, Grace E. Lidgerwood, Maciej Daniszewski, Alice Pébay
Interestingly, the presence of drusen in a dish was recently reported in iPSC-derived RPE cells (Galloway et al., 2017). The study demonstrates that RPE cells generated from patients suffering from various maculopathies (Sorsby’s fundus dystrophy, Doyne honeycomb retinal dystrophy and autosomal dominant radial drusen) are responsible for the formation of drusen-like deposits underneath the epithelium, which was accompanied by an increased expression of complement factor pathway genes. Similarly, the retinal dystrophy Best disease (BD) was modelled using patient specific iPSCs. Once differentiated to RPE cells, those showed functional defects, including a delayed degradation of photoreceptor outer segments and increased oxidative stress following chronic photoreceptor outer segment feeding (Singh et al., 2015; Singh et al., 2013).
Neuro-Ophthalmic Literature Review
Published in Neuro-Ophthalmology, 2021
David A. Bellows, Noel C.Y. Chan, John J. Chen, Hui-Chen Cheng, Peter W. MacIntosh, Jenny A. Nij Bijvank, Michael S. Vaphiades, Konrad P. Weber, Sui H. Wong
An 11-year-old girl noted gradual visual loss in the right eye for 1 year with subfoveal yellow deposits in both eyes. Optical coherence tomography, electro-oculogram and electroretinogram was in-keeping with Best Disease. Best vitelliform macular dystrophy (BVMD) is the second most common hereditary macular dystrophy and is a rare autosomal dominant disorder manifesting with slow visual loss from retinal degeneration. It is part of a spectrum of disorders called bestrophinopathies which are pathogenic variants of the mutation of the BEST1 gene. There are 4 phenotypes: (1) the aforementioned BVMD, (2) BEST1 adult-onset vitelliform macular dystrophy (AVMD), (3) autosomal dominant vitreoretinochoroidopathy (ADVIRC); and (4) autosomal recessive bestrophinopathy. The disease is characterised by accumulation of lipofuscin-like materials on the retinal pigment epithelium cell-photoreceptor interface. These mutations may contribute apoptosis of the retinal pigment epithelium (RPE) cells by targeting Caspase-3 (a protein encoded by the CAPS3 gene) which may be one of the mechanisms in bestrophinopathies.
Recurrence of SRF Post Intravitreal Ranibizumab for Pediatric Choroidal Neovascularisation Secondary to Best Disease
Published in Ocular Immunology and Inflammation, 2020
Deivanai Subbiah, Hanizasurana Hashim, Fiona Lee Min Chew
Best disease or vitelliform dystrophy is a rare autosomal dominant-inherited retinal dystrophy which leads to accumulation of lipofuscin in the retinal pigment epithelium (RPE). The prevalence of Best is estimated to be 1.5 in 1000000 individuals.1 Choroidal neovascularization (CNV) is estimated to occur in 20% of Best disease and is associated with poor visual prognosis due to its predominantly subfoveal location.2 Complications of CNV include subretinal fluid (SRF) and hemorrhage, RPE detachment and subretinal fibrosis. Intravitreal anti-vascular endothelial growth factor (VEGF) shows promise for resolution of subretinal fluid and hemorrhage secondary to CNV in pediatric patients.3,4 Limited data, however, exists regarding the long-term outcome of this treatment. We present four cases of choroidal neovascularization secondary to pediatric Best disease which were treated with two different doses of intravitreal ranibizumab.
Progression of Anterograde Trans-Synaptic Degeneration in the Human Retina Is Modulated by Axonal Convergence and Divergence
Published in Neuro-Ophthalmology, 2019
E.L. Panneman, D. Coric, L.M.D. Tran, W.A.E.J. de Vries-Knoppert, A. Petzold
Patients diagnosed with outer retinal diseases were manually selected and enrolled from an outpatient database in which diagnosis was stated from 1 September 2011 to 15 September 2015. Physicians of the department of Ophthalmology were able to refer additional patients from 26 October 2015 to 4 January 2016, in case potential eligible patients were not present in the outpatient database. In order for patients to be eligible to participate in this study, a diagnosis of current outer retinal originated disease was necessary. The outer retinal diseases used in this research included fundus flavimaculatus/Stargardt disease, rod-cone/cone-rod dystrophies, geographic atrophy (GA), central areolar choroidal dystrophy (CACD), vitelliform macular dystrophy/Best disease, acute zonal outer occult retinopathy (AZOOR), and bull’s-eye maculopathy (BEM). The key pathological features of these diseases are summarised in Table 1.12–24