Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 8 of 8 for “"inherited retinal disease"”.
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The factors affecting the inherited retinal disease project in South Africa - Including insights from Genetic Counsellors
The Inherited Retinal Disease (IRD) Biorepository based in the Division of Human Genetics at the University of Cape Town, has conducted research into the molecular basis of IRD since 1990. Historically, and as part of this programme, patients with IRD are recruited and research into the genetic …
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Method Optimization and Formulation of Chitosan Nanoparticle for PRPF31 Gene Delivery
Retinitis Pigmentosa (RP), an inherited retinal disease, is characterized by a progressive loss of photoreceptor cells, leading to vision impairment. Current treatments, including retinoids and vitamin A supplements, primarily offer symptomatic relief without addressing the genetic root causes of …
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Systematic Methodology For The Identification of A Novel Autosomal Dominant Retinitis Pigmentosa Disease-Causing Gene
<p>Retinitis pigmentosa (RP) is an inherited retinal disease that leads to degeneration of the retina through loss of rod and cone photoreceptor cells and subsequent loss of vision. RP affects approximately 1.5 million people world-wide. Mutations causing autosomal dominant retinitis pigmentosa …
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Identification and Application of Novel Therapeutic Targets for PRPH2-Associated Disorders
… are some of the most pervasive pathogenic inherited retinal disease mutations with over 200 identified. Lack of an FDA approved treatment, numerous low prevalence mutations, and complex pathogenic mechanisms make it imperative to identify a ubiquitous therapeutic target. We attempted to …
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Exploration of the impact of genetic counselling and patient support group involvement on retinal degenerative disorders (RDD) patients: a qualitative study
… clinical genetic service in South Africa, with inherited retinal disease. Methods: This qualitative research was based on a grounded theory approach. Semi-structured interviews were carried out after obtaining approval from the University of Cape Town Research and Ethics committees as well as …
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Steroid induced neuroprotection of damaged photoreceptor cells
… (RP) is the name given to a group of hereditary diseases causing progressive and degenerative blindness. RP affects over 1 in 4000 individuals, making it the most prevalent inherited retinal disease worldwide, yet currently there is no cure. In 2011, our group released a paper detailing the …
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X-LINKED RETINOSCHISIS ELECTROPHYSIOLOGY, MOLECULAR GENETICS AND TREATMENT
… retinoschisis (XLRS) is a congenital progressive inherited retinal disease that affects the entire retina and is one of the more common causes of vision loss from retinal degeneration affecting young men,. The progression is variable but seems to be relatively stationary in the ages 6 to 25 years. …