PRO58 Beyond Color Blindness: The Patient and Societal IMPACT of Photoaversion and Vision Loss Associated with Achromatopsia
This review aimed to identify the burden of achromatopsia, a rare inherited retinal condition associated with loss of cone function and consequent visual impairment. (Source: Value in Health)
Source: Value in Health - June 1, 2021 Category: International Medicine & Public Health Authors: M. Chivers, F. Pan, N. Li, H. Wieffer, R. Slowik, J. Leartsakulpanitch Source Type: research
Three-year results of phase I retinal gene therapy trial for CNGA3-mutated achromatopsia: results of a non randomised controlled trial
CONCLUSION: The results demonstrate a very good safety profile of the therapy even at the highest dose administered. The small sample size limits the statistical power of efficacy analyses. However, trial results inform on the most promising design and endpoints for future clinical trials. Such trials have to determine whether treatment of younger patients results in greater functional gains by avoiding amblyopia as a potential limiting factor.PMID:34006508 | DOI:10.1136/bjophthalmol-2021-319067 (Source: The British Journal of Ophthalmology)
Source: The British Journal of Ophthalmology - May 19, 2021 Category: Opthalmology Authors: Felix Friedrich Reichel Stylianos Michalakis Barbara Wilhelm Ditta Zobor Regine Muehlfriedel Susanne Kohl Nicole Weisschuh Vithiyanjali Sothilingam Laura Kuehlewein Nadine Kahle Immanuel Seitz Francois Paquet-Durand Stephen H Tsang Peter Martus Tobias Pet Source Type: research
Three-year results of phase I retinal gene therapy trial for CNGA3-mutated achromatopsia: results of a non randomised controlled trial
CONCLUSION: The results demonstrate a very good safety profile of the therapy even at the highest dose administered. The small sample size limits the statistical power of efficacy analyses. However, trial results inform on the most promising design and endpoints for future clinical trials. Such trials have to determine whether treatment of younger patients results in greater functional gains by avoiding amblyopia as a potential limiting factor.PMID:34006508 | DOI:10.1136/bjophthalmol-2021-319067 (Source: The British Journal of Ophthalmology)
Source: The British Journal of Ophthalmology - May 19, 2021 Category: Opthalmology Authors: Felix Friedrich Reichel Stylianos Michalakis Barbara Wilhelm Ditta Zobor Regine Muehlfriedel Susanne Kohl Nicole Weisschuh Vithiyanjali Sothilingam Laura Kuehlewein Nadine Kahle Immanuel Seitz Francois Paquet-Durand Stephen H Tsang Peter Martus Tobias Pet Source Type: research
Identification of chemical and pharmacological chaperones for correction of trafficking- deficient mutant CNGA3 channels
We describe a novel luminescence-based assay to detect the surface expression of mutant, trafficking deficient CNGA3 channels based on the calcium sensitive photoprotein aequorin. Using this assay for a compound screening, we identified novel chemical and pharmacological chaperones restoring the surface localization of mutant trafficking-deficient CNGA3 channels. The results from our work may serve as starting point for the development of potent compounds rescuing trafficking deficiencies in the autosomal-recessively inherited retinal disease achromatopsia.PMID:33827965 | DOI:10.1124/molpharm.120.000180 (Source: Molecular Medicine)
Source: Molecular Medicine - April 8, 2021 Category: Molecular Biology Authors: Joachim T äger Bernd Wissinger Susanne Kohl Peggy Reuter Source Type: research
Identification of chemical and pharmacological chaperones for correction of trafficking- deficient mutant CNGA3 channels
We describe a novel luminescence-based assay to detect the surface expression of mutant, trafficking deficient CNGA3 channels based on the calcium sensitive photoprotein aequorin. Using this assay for a compound screening, we identified novel chemical and pharmacological chaperones restoring the surface localization of mutant trafficking-deficient CNGA3 channels. The results from our work may serve as starting point for the development of potent compounds rescuing trafficking deficiencies in the autosomal-recessively inherited retinal disease achromatopsia.PMID:33827965 | DOI:10.1124/molpharm.120.000180 (Source: Molecular Medicine)
Source: Molecular Medicine - April 8, 2021 Category: Molecular Biology Authors: Joachim T äger Bernd Wissinger Susanne Kohl Peggy Reuter Source Type: research
Panel ‐based genetic testing for inherited retinal disease screening 176 genes
ConclusionThis study confirms that NGS 176 is a useful first ‐tier genetic test for most IRD patients. Age and initial clinical diagnosis were strongly associated with diagnostic yield. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 22, 2021 Category: Genetics & Stem Cells Authors: Leo H. N. Sheck,
Simona D. Esposti,
Omar A. Mahroo,
Gavin Arno,
Nikolas Pontikos,
Genevieve Wright,
Andrew R. Webster,
Kamron N. Khan,
Michel Michaelides Tags: ORIGINAL ARTICLE Source Type: research
Strategies for Treating Inherited Retinal Degeneration
Monogenic inherited retinal degeneration (IRD) occurs from variations in genes associated with critical biochemical or physiological pathways necessary for normal function of outer retinal cells, which, when deficient, create disease with substantial visual loss in patients. Gene replacement (or augmentation) therapy involves transporting a good copy of the defective gene along with a promoter to the affected cells of the retina, most often requiring vitreoretinal surgery and subretinal injection. The ideal gene for augmentation is one with a function that is either enzymatic or involves a single biochemical pathway, altho...
Source: JAMA Ophthalmology - March 1, 2021 Category: Opthalmology Source Type: research
