Inherited Retinal Degenerations in the Mouse

1994 ◽  
pp. 123-151
Author(s):  
Debora Farber ◽  
Michael Danciger
Keyword(s):  
Retinal Degenerations

Retinal Degenerations: From Cell Signaling to Cell Therapy; Pre-Clinical and Clinical Issues

2007 ◽  
Vol 7 (2) ◽  
pp. 121-129 ◽  
Author(s):  
Therese Cronin ◽  
Thierry Leveillard ◽  
Jose-Alain Sahel
Keyword(s):  
Cell Therapy ◽  
Cell Signaling ◽  
Clinical Issues ◽  
Retinal Degenerations

Differential role of Jak‐STAT signaling in retinal degenerations

2006 ◽  
Vol 20 (13) ◽  
pp. 2411-2413 ◽  
Author(s):  
Marijana Samardzija ◽  
Andreas Wenzel ◽  
Svenja Aufenberg ◽  
Markus Thiersch ◽  
Charlotte Remé ◽  
...  
Keyword(s):  
Retinal Degenerations ◽  
Stat Signaling

scholarly journals Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Ta-Ching Chen ◽  
Ding-Siang Huang ◽  
Chao-Wen Lin ◽  
Chang-Hao Yang ◽  
Chung-May Yang ◽  
...  
Keyword(s):  
Demographic Data ◽  
Genomic Medicine ◽  
Research Database ◽  
Genetic Characteristics ◽  
Common Cause ◽  
Gene Therapies ◽  
Retinal Degenerations ◽  
Near Future ◽  
Inherited Retinal Degeneration ◽  
Bietti's Crystalline Dystrophy

AbstractInherited retinal degenerations (IRDs) are a group of phenotypically and genotypically heterogeneous disorders with substantial socioeconomic impact. In this cohort study, we tried to address the genetic characteristics and epidemiology of IRDs in Taiwan. Totally, 312 families with IRDs were identified and recruited and genetic testing was performed via probe capture-based NGS targeting 212 IRD-related genes. Statistical analysis was based on the proband of each affected family. Disease-causing genotypes were identified in 178 families (57.1%). ABCA4 variants were the most common cause of disease in this cohort (27 families, 15.2%), whereas CYP4V2 variants were the most common cause for the single phenotype—Bietti’s crystalline dystrophy (12 families, 3.8%). Some variants such as ABCA4:c.1804C>T, CYP4V2:c.802-8_810delinsGC, and EYS:c6416G>A were population-specific disease-causing hotspots. Probands affected by ABCA4, RPGR, RP1L1, and CEP290 sought medical help earlier while patients affected by EYS and CYP4V2 visited our clinic at an older age. To evaluate the representativeness of our cohort in the genetic epidemiology of IRDs in Taiwan, our demographic data were compared with that of the total IRD population in Taiwan, obtained from the National Health Insurance Research Database. This is currently the largest-scale, comprehensive study investigating the genetic characteristics and epidemiology of IRD in Taiwan. These data could help patients and caregivers to adopt precision genomic medicine and novel gene therapies in near future.

Practical considerations of recombinant adeno-associated virus-mediated gene transfer for treatment of retinal degenerations

2003 ◽  
Vol 5 (7) ◽  
pp. 576-587 ◽  
Author(s):  
Wei-Yong Shen ◽  
Chooi-May Lai ◽  
Yvonne K. Y. Lai ◽  
Dan Zhang ◽  
Tammy Zaknich ◽  
...  
Keyword(s):  
Gene Transfer ◽  
Adeno Associated Virus ◽  
Retinal Degenerations

scholarly journals Macular Pigment and Lutein Supplementation inABCA4-Associated Retinal Degenerations

2007 ◽  
Vol 48 (3) ◽  
pp. 1319 ◽  
Author(s):  
Tomas S. Aleman ◽  
Artur V. Cideciyan ◽  
Elizabeth A. M. Windsor ◽  
Sharon B. Schwartz ◽  
Malgorzata Swider ◽  
...  
Keyword(s):  
Macular Pigment ◽  
Retinal Degenerations

scholarly journals Developing an Outcome Measure With High Luminance for Optogenetics Treatment of Severe Retinal Degenerations and for Gene Therapy of Cone Diseases

2016 ◽  
Vol 57 (7) ◽  
pp. 3211 ◽  
Author(s):  
Artur V. Cideciyan ◽  
Alejandro J. Roman ◽  
Samuel G. Jacobson ◽  
Boyuan Yan ◽  
Michele Pascolini ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Outcome Measure ◽  
High Luminance ◽  
Retinal Degenerations

Isolation of Candidate Genes for Retinal Degenerations

1997 ◽  
pp. 205-226
Author(s):  
George Inana ◽  
Akira Murakami ◽  
Hitoshi Sakuma ◽  
Tomomi Higashide ◽  
Toshihiro Yajima ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Retinal Degenerations
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