A Practical Approach to Retinal Dystrophies
Genomic approaches to developing new diagnostic and therapeutic strategies in retinal dystrophies are among the most advanced applications of genetics (Tsang SH, Gouras P (1996) Molecular physiology and pathology of the retina. In: Duane TD, Tasman W, Jaeger AE (eds) Duane’s clinical opthalmology. Lippincott-Raven, Philadelphia). The notion that “nothing can be done” for patients with retinal dystrophies is no longer true. Electrophysiological testing and autofluorescence imaging help to diagnose and predict the patient’s course of disease. Better phenotyping can contribute to better-directed, cost-efficient genotyping. Combining fundoscopy, autofluorescent imaging, and electrophysiological testing is essential in approaching patients with retinal dystrophies. Emerging are new gene-based treatments for these devastating conditions.
KeywordsInherited retinal dystrophy Clinical examination Imaging
This chapter previously appeared in the April 2007 issue of Retinal Physician, published by Pentavision LLC; reprinted with permission.
- Asper Ophthalmics. ABCR genetic testing. Available at: http://www.asperophthalmics.com/ABCRgenetest.htm. (2007). Accessed 20 Mar 2007.
- Berson E. Electroretinographic testing as an aid in determining visual prognosis in families with hereditary retinal degenerations. New York: Retina Congress Appleton-Century-Crofts; 1974.Google Scholar
- Columbia University Medical Center. Stem Cell Consortium. Available at: http://www.cumc.columbia.edu/stemcell. (2007). Accessed 20 Mar 2007.
- GeneTests Home Page. Available at: http://www.genetests.org. (2007). Accessed 20 Mar 2007.
- Heckenlively JR, Arden GB. Principles and practice of clinical electrophysiology of vision. 2nd ed. Cambridge, MA: MIT Press; 2006.Google Scholar
- International Society for Clinical Electrophysiology of Vision. Standards, recommendations and guidelines. Available at: http://www.iscev.org/standards/index.html (2007). Accessed 20 Mar 2007.
- National Eye Institute. Information for doctors who follow patients with retinitis pigmentosa. Available at: http://www.nei.nih.gov/news/clinicalalerts/alert-rp.asp. (2007). Accessed 20 Mar 2007.
- National Eye Institute. National Ophthalmic Disease Genotyping Network (eyeGENE). Available at: http://www.nei.nih.gov/resources/eyegene.asp. (2007). Accessed 20 Mar 2007.
- Taylor D, Hoyt CS. Pediatric ophthalmology and strabismus. 3rd ed. Elsevier Saunders: New York, NY; 2005.Google Scholar
- Traboulsi EI. Genetic diseases of the eye. New York: Oxford University Press; 1998.Google Scholar
- Tsang SH, Gouras P. Molecular physiology and pathology of the retina. In: Duane TD, Tasman W, Jaeger AE, editors. Duane’s clinical opthalmology. Philadelphia: Lippincott-Raven; 1996.Google Scholar
- Tsang SH, Woodruff ML, Jun L, Mahajan V, Yamashita CK, Pedersen R, et al. Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness. Hum Mutat. 2006b;28:243–54.CrossRefGoogle Scholar
- Yannuzzi LA, Guyer DR, Green WR. The retina atlas. St. Louis: Mosby; 1995.Google Scholar