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Genetic retinal diseases
Author(s) -
LEROY BP
Publication year - 2012
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2012.4213.x
Subject(s) - rpe65 , retinal , genetic enhancement , medicine , stargardt disease , clinical trial , disease , retinal disorder , cis trans isomerases , ophthalmology , retinal pigment epithelium , biology , genetics , gene , pathology , peptidylprolyl isomerase , isomerase
Purpose To describe the current status of treatment for inherited retinal disease, and illustrate the challenges that lie ahead. Methods An overview of current treatment trials for inherited retinal disease in humans and animals will be used to illustrate where success has been achieved, but also where challenges remain. These include gene therapy trials in RPE65‐related Leber congenital amaurosis, Stargardt macular dystrophy and choroideraemia. Results Albeit that encouraging breakthroughs have been made with regard to treating inherited retinal diseases, such as in the gene therapy trials in RPE65‐related Leber congenital amaurosis, challenges lie ahead, such as gene‐specificity of gene therapy, intravitreal as opposed to subretinal injections, stem cell control, and cost. Conclusion Despite initial success of trials in inherited retinal diseases, quite a number of obstacles remain.