Results 171 to 180 of about 85,708 (347)
Modeling retinitis pigmentosa through patient-derived retinal organoids
STAR Protocols, 2021 Summary: Human-induced pluripotent stem cells (hiPSCs) can be differentiated into well-structured retinal organoids. In this protocol, we successfully established 3D retinae from patient-derived hiPSCs and built the retinitis pigmentosa model in vitro ...
Yan-Ping Li, Wen-Li Deng, Zi-Bing Jin
doaj
B. Hallgren: Retinitis Pigmentosa combined with congenital deafness; with vestibulocerebellar ataxia and mental Abnormality in a Proportion of cases: a Clinical and Genetico-Statistical Study, geh., 97 S., ohne Preis. Ejnar Munksgaard, Kopenhagen, 1959. [PDF]
, 1960 Grebe
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On the heredity of retinitis pigmentosa. [PDF]
British Journal of Ophthalmology, 1982 The aims of this study are: (1) to determine the frequencies of the various genetic forms of retinitis pigmentosa; and (2) to perform segregation analysis on autosomal dominant, autosomal recessive, and X-linked families. The families studied consisted of 2 series of patients at Moorfields Eye Hospital: (1) 426 families seen in the Genetic Clinic; and (
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CORRELATIONS BETWEEN CHOROIDAL STRUCTURES AND VISUAL FUNCTIONS IN EYES WITH RETINITIS PIGMENTOSA
Retina, 2018 The author report the structural changes in the inner and outer choroid determined by the binarization of enhanced depth imaging optical coherence tomographic images in 100 eyes with retinitis pigmentosa compared with 60 normal controls and significant ...
Mariko Egawa +8 more
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Photoreceptor degeneration has heterogeneous effects on functional retinal ganglion cell types
The Journal of Physiology, EarlyView.Abstract figure legend Photoreceptor loss has heterogeneous effects on functional retinal ganglion cell (RGC) types. A, illustrations of cross‐sections of rd10 retinae at different time points during degeneration. Left: P30, rod degeneration has commenced, cones are still unaffected.
Nadine Dyszkant +6 more
wiley +1 more source
Clinical Genetics, Volume 108, Issue 1, Page 14-21, July 2025.Inherited retinal diseases (IRDs) are a leading cause of vision loss, with an incidence of 1:2000. In this study of 50 Turkish patients, next‐generation sequencing identified pathogenic variants in 58%, including novel variants in six genes. This research enhances genetic understanding and supports improved diagnostics and treatments for IRDs ...
Cuneyd Yavas +7 more
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Journal of Translational MedicineBackground Retinitis pigmentosa is the prevailing genetic cause of blindness in developed nations with no effective treatments. In the pursuit of unraveling the intricate dynamics underlying this complex disease, mechanistic models emerge as a tool of ...
Marina Esteban-Medina +7 more
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Ophthalmic and Physiological Optics, Volume 45, Issue 5, Page 1158-1163, July 2025.Abstract Introduction Standard visual acuity (VA) is often insensitive to subtle changes in vision that result from inherited retinal disease. Low luminance VA (LLVA) has grown in popularity as an alternative acuity measure. A new test, the Moorfields Acuity Chart (MAC) has been designed as a more sensitive and repeatable test for use in patients with ...
Laura J. Taylor +2 more
wiley +1 more source
Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs. [PDF]
, 2017 Inherited retinal dystrophies are an important cause of blindness, for which currently there are no effective treatments. In order to study this heterogeneous group of diseases, adequate disease models are required in order to better understand pathology
Carr, Amanda-Jayne F +12 more
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