Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa.

Conclusions: RPE atrophy progresses along with a loss of photoreceptors, and parafoveal RPE hypoautofluorescence is commonly seen in KIZ-associated RP patients. KIZ-associated RP is an early-onset severe rod-cone dystrophy. PMID: 32052671 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

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Authors: Rohrschneider K, Bolz HJ Abstract The Bardet-Biedl syndrome (BBS) is a rare inherited ciliopathy, which is accompanied by retinal disease, i.e. rod-cone dystrophy (retinitis pigmentosa, RP) and other symptoms, especially truncal obesity, polydactyly, renal abnormalities as well as reduced intelligence or learning difficulties. 25 BBS genes are currently known, and these are responsible for the structure and function of primary cilia. Because ciliary integrity is crucial for numerous pathways of developmental signaling, their dysfunction may cause multisystemic disorders - like BBS. Physicians benefit great...
Source: Klinische Monatsblatter fur Augenheilkunde - Category: Opthalmology Tags: Klin Monbl Augenheilkd Source Type: research
Abstract Rapid progress in knowledge of the organization of the dog genome has facilitated the identification of the mutations responsible for numerous monogenic diseases, which usually present a breed-specific distribution. The majority of these diseases have clinical and molecular counterparts in humans. The affected dogs have thus become valuable models for preclinical studies of gene therapy for problems such as eye diseases, immunodeficiency, lysosomal storage diseases, hemophilia, and muscular dystrophy. Successful gene therapies in dogs have significantly contributed to decisions to run clinical trials for ...
Source: J Appl Genet - Category: Genetics & Stem Cells Authors: Tags: J Appl Genet Source Type: research
ABSTRACT Degenerative retinal diseases such as retinitis pigmentosa, Stargardt ’ s macular dystrophy, and age-related macular degeneration are characterized by irreversible loss of vision due to direct or indirect photoreceptor damage. No effective treatments exist, but stem cell studies have shown promising results. Our aim with this review was to describe the types of stem cells that are under study, their effects, and the main clinical trials involving them.RESUMO As doen ças degenerativas da retina, como retinose pigmentar, distrofia macular de Stargardt e degeneração macular relaciona &agrav...
Source: Arquivos Brasileiros de Oftalmologia - Category: Opthalmology Source Type: research
ABSTRACT Degenerative retinal diseases such as retinitis pigmentosa, Stargardt ’ s macular dystrophy, and age-related macular degeneration are characterized by irreversible loss of vision due to direct or indirect photoreceptor damage. No effective treatments exist, but stem cell studies have shown promising results. Our aim with this review was to describe the types of stem cells that are under study, their effects, and the main clinical trials involving them.RESUMO As doen ças degenerativas da retina, como retinose pigmentar, distrofia macular de Stargardt e degeneração macular relaciona &agrav...
Source: Arquivos Brasileiros de Oftalmologia - Category: Opthalmology Source Type: research
Conditions:   Retinitis Pigmentosa;   Inherited Retinal Dystrophy Intervention:   Biological: Wharton's jelly derived mesenchymal stem cell Sponsor:   Ankara Universitesi Teknokent Completed
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
CONCLUSIONS: Study's findings suggest conclusive evidence for rtACS treatment. For other protocols results are promising but not conclusive since the examined studies assessed different stimulation parameters and endpoints. A comparison of the effects of different combinations of these variables still lacks in the literature. Further studies are needed to optimize existing protocols and determine if different protocols are needed for different diseases. PMID: 31884495 [PubMed - as supplied by publisher]
Source: Restorative Neurology and Neuroscience - Category: Neurology Tags: Restor Neurol Neurosci Source Type: research
Conclusion: In summary, the mechanisms of varying phenotypes resulting from CRB1 genetic mutation are still not well understood. We concluded that the presence of different phenotypes associated with identical genotypic mutation of a single gene in siblings or in a family is important especially when dealing with retinal dystrophies. PMID: 31875109 [PubMed]
Source: Journal of Ophthalmic and Vision Research - Category: Opthalmology Tags: J Ophthalmic Vis Res Source Type: research
Mutations in the Kelch-like protein 7 (KLHL7) represent a recently described and, to date, poorly characterized etiology of inherited retinal dystrophy. Dominant mutations in KLHL7 are a cause of isolated, non-sy...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Conclusion: Choroidal HRF were present in both RP and SGD subjects with more HRFs in those with RP. These HRFs were associated with alteration in choroidal vascularity, which further adds into the pathogenesis of these diseases.
Source: Indian Journal of Ophthalmology - Category: Opthalmology Authors: Source Type: research
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