Results 111 to 120 of about 60,185 (237)
Role of microglial cells in photoreceptor degeneration
Neural Regeneration Research, 2019 Inherited photoreceptor degeneration in humans constitutes a major cause of irreversible blindness in the world. They comprise various diseases, but retinitis pigmentosa is the most frequently observed. Retinitis pigmentosa is commonly limited to the eye,
Johnny Di Pierdomenico +4 more
doaj +1 more source
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
openalex +1 more source
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
semanticscholar +1 more source
Clinical Genetics, EarlyView.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
wiley +1 more source
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
Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort
Clinical Genetics, EarlyView.This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir +7 more
wiley +1 more source
The FEBS Journal, EarlyView.Transplantation of stem cell‐derived photoreceptors in retinal repair. We summarize methods for differentiating stem cells and describe surgical techniques for transplanting photoreceptor precursors to restore visual function (A). The effectiveness of these techniques is assessed with behavioral (B) and in vitro assays (C) using mouse models that mimic
Darin Zerti +5 more
wiley +1 more source
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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