Ron Philip, Chief Commercial Officer of Spark Therapeutics, discusses gene testing for inherited eye diseases, including his company’s initative

Inherited retinal diseases are a group of rare eye disorders caused by an inherited gene mutation and can result in vision loss or blindness. Common IRDs include retinitis pigmentosa (RP), choroideremia (CHM), Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD) and juvenile macular degeneration (JMD). Stargardt disease is the most common form of inherited juvenile macular degeneration.

There are more than 260 genes known to cause these inherited retinal conditions, and the availability of genetic testing has opened doors and brought information and clarity to those living with one of these rare eye diseases.

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