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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
The retinal pigment epithelium (RPE) cells are a polarised monolayer of polygonal pigmented epithelial cells. The RPE has many functions including light absorption, epithelial transport and homeostatic support of the underlying photoreceptors. Dysfunction of the RPE is associated with various conditions, including age-related macular degeneration (AMD), retinitis pigmentosa and other rare retinal dystrophies such as Best disease, Doyne honeycombe retinal dystrophy and Sorsby’s fundus dystrophy.
Oliver McFarlane syndrome and choroidal neovascularisation: a case report
Published in Ophthalmic Genetics, 2020
Aruni Kumari Makuloluwa, Rutika Dodeja, Michalis Georgiou, Jose Gonzalez-Martin, Richard Hagan, Savita Madhusudhan, Michel Michaelides
In the context of inherited chorioretinal diseases, chronic inflammation promoting an angiogenic drive, disruption and degeneration of the RPE and dysfunction of choroidal circulation, may all play a role in inciting secondary CNV (9,10). CNV has been described in many inherited retinal diseases, including retinitis pigmentosa, Stargardt disease, fundus flavimaculatus, Sorsby fundus dystrophy, Bietti crystalline dystrophy, Best disease, and autosomal recessive bestrophinopathy, which have been successfully treated with either intravitreal bevacizumab or ranibizumab – often with a single injection (11–20) or photodynamic therapy (21–23). Prager et al. also presented a case of CNV secondary to Sorsby fundus dystrophy, which was successfully treated with three systemic injections of bevacizumab (5 mg/kg) at two-weekly intervals, with no serious ocular or systemic side effects(24). In the majority of these cases, the CNV resolved with a degree of scarring. Autosomal recessive bestrophinopathy, has also been successfully managed with surgical removal of the CNV(25).
A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype
Published in Ophthalmic Genetics, 2020
Meghan J. DeBenedictis, Yosef Gindzin, Enrico Glaab, Bela Anand-Apte
Sorsby Fundus Dystrophy is a rare, early-onset autosomal dominant retinal dystrophy first described in 1949 (1). Symptoms generally first appear in the third to fourth decade of life as central visual blurring, metamorphopsia, central scotomas, nyctalopia, and/or reduced color vision, with progressive worsening over time (2–4). The slow progression of vision loss is generally a consequence of progressive geographic atrophy while a rapid onset of the central blurring vision suggests choroidal neovascularization that develops in a majority of patients with this disease (5–8). Typical clinical exam findings include drusen-like deposits between the basal lamina of the retinal pigment epithelium (RPE) and inner collagenous layer of Bruch’s membrane or reticular pseudodrusen deposits between the photoreceptor outer segments and the apical surface of the RPE (9,10). Histopathological examination of SFD eyes shows thick, widespread, confluent lipid-enriched amorphous deposits in the basal lamina of RPE (9,11–13). Choroidal neovascularization is a common occurrence in these patients and can lead to intraretinal edema, subretinal fluid accumulation, as well as subretinal hemorrhage (14,15). Chorioretinal atrophy can often be widespread late in the disease. The presentation of SFD is similar to age-related macular degeneration (AMD), Malattia Leventinese (familial dominant drusen, or Doyne honeycomb retinal dystrophy), pattern dystrophy, and Best disease. SFD is caused by pathogenic variants in the TIMP3 (Tissue Inhibitor of Metalloproteinase-3) gene that encodes a protein that inhibits enzymes that degrade matrix components (16,17). Simulation of retinitis pigmentosa has not been emphasized and could be a source of inaccurate clinical diagnosis as in the present report.
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene
Published in Ophthalmic Genetics, 2021
Julie De Zaeytijd, Frauke Coppieters, Marieke De Bruyne, Jasper Van Royen, Dimitri Roels, Rani Six, Caroline Van Cauwenbergh, Elfride De Baere, Bart P. Leroy
Known as the great AMD mimicker, Sorsby fundus dystrophy (SFD) also shows widespread subretinal deposits, and is dominantly inherited. As Sorsby disease evolves, atrophic patches are often mixed with drusen. During this phase, L-ORD and SFD can be easily confused (24).