Inherited degenerative eye disease
Retinitis pigmentosa (RP) is an inherited condition caused by a variety of genetic mutations that affect the function and viability of the photoreceptor cells of the retina. The mutations lead eventually to death of photoreceptors and accumulation of pigment in the retina. RP results in numerous symptoms that compromise vision including light sensitivity, tunnel vision, poor night vision, and eventually blindness. Symptoms of RP most commonly occur in early childhood and affect nearly 1 in 4,000 people worldwide(1).
Inevitable progression to blindness by age 40
The progression of RP is often slow, but typically, after decades, the disease increases in severity and vision is permanently decreased. Patients diagnosed with RP during childhood are generally considered legally blind by the age of 40.
A progressive disease with no effective treatment
Approximately 1.4 million people worldwide are affected by RP(1). There are currently no treatment options for patients with RP, and the disease's progression to blindness is inevitable. The factors influencing the development and progression of RP have been identified in over 100 different gene mutations(2).
(1) Facts About Retinitis Pigmentosa. National Eye Institute [Internet]. Nei.nih.gov. 2016 [cited 2016 Nov 17]; Available from: https://www.nei.nih.gov/health/pigmentosa/pigmentosa_facts.
(2) Nash B, Wright D, Grigg J, Bennetts B, Jamieson R. Retinal dystrophies, genomic applications in diagnosis and prospects for therapy. Translational Pediatrics 2015; 4(2).