Genetic Testing for Eye Diseases: A Comprehensive Guide and Review of Ocular Genetic Manifestations from Anterior Segment Malformation to Retinal Dystrophy-Reference-Cited by-同舟云学术

Genetic Testing for Eye Diseases: A Comprehensive Guide and Review of Ocular Genetic Manifestations from Anterior Segment Malformation to Retinal Dystrophy

Published:2016-03-18 Issue:2 Volume:4 Page:41-48
ISSN:2167-4876
Container-title:Current Genetic Medicine Reports
language:en
Short-container-title:Curr Genet Med Rep

Author:

Lee Kristy,Couser Natario L.

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s40142-016-0087-0.pdf

Reference56 articles.

1. • Feuer WJ, Schiffman JC, Davis JL, et al. Gene therapy for Leber hereditary optic neuropathy: initial results. Ophthalmology. 2015. doi: 10.1016/j.ophtha.2015.10.025 . This study reports promising data regarding a treatment trial underway for LHON; for which there were no serious adverse effects and two of five participants experienced an improvement in visual acuity.

2. • Jacobson SG, Cideciyan AV, Aquirre GD, et al. Improvement in vision: a new goal for treatment of hereditary retinal degenerations. Expert Opin Orphan Drugs. 2015;3(5):563–75. This review provides an overview of the successes of RPE65 gene therapy for LCA by expert who have hands on experience with these clinical trials.

3. Hanus J, Zhao F, Wang S. Current therapeutic development for atrophic age-related macular degeneration. Br J Ophthalmol. 2015;100:122–7. doi: 10.1136/bjophthalmol-2015-306972 .

4. • Lee K, Garg S. Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies. Genet Med. 2015;17(4):45–52. This review provides guidance as to which testing may be most appropriate in different clinical scenarios for retinopathies as well as highlighting its limitations.

5. Sullivan TJ, Lambert SR, Buncic JR, Musarella MA. The optic disc in Leber congenital amaurosis. J Pediatr Ophthalmol Strabismus. 1992;29(4):246–9.

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