Retinitis Pigmentosa- A Genetic Perspective on Retina Degeneration

Retinitis pigmentosa is a class of diseases involving progressive degeneration of the retina and comprises a large group of inherited vision disorders. Retinitis pigmentosa causes light-sensing cells in the retina to break down slowly over time which can lead to vision loss, beginning with loss of night vision, that is often apparent in childhood. Later in life the genetic perspective of retina degeneration from retinitis pigmentosa will cause blind spots to develop in the peripheral vision. As it progresses over years or decades, central vision will be affected causing difficulty when reading, driving or recognizing faces. In adulthood, retinitis pigmentosa escalates causing legal blindness. Some forms of retinitis pigmentosa are associated with deafness, obesity, kidney disease and other health conditions including the central nervous system, metabolic disorders and possibly chromosomal abnormalities. 

Although classified as a rare ocular disease, retinitis pigmentosa affects 50,000 to 100,000 people in the United States and millions of people worldwide. Despite remaining an incurable cause of blindness, strides in genetic research are changing the way ophthalmologists consider retinitis pigmentosa. Cutting edge therapies including gene replacement therapy involving the replacement of defective genes are being discussed within the genetic research community as a possible and viable option for reversing the effects of retinitis pigmentosa. Retinitis pigmentosa may be inherited in different types: autosomal recessive, autosomal dominant or X-linked recessive pattern. Mutations in more than 60 genes are known to cause non-syndromic retinitis pigmentosa. More than 20 of these genes are associated with the autosomal dominant form of the disorder. Mutations in the RHO gene are the most common cause of autosomal dominant retinitis pigmentosa and account for up to 30% of all cases. Autosomal dominant retinitis pigmentosa has the greatest possibility of parent to child transmission.  
Retinitis pigmentosa is diagnosed and measured by genetic testing, electroretinography, visual field testing and optical coherence tomography. Some research has shown that vitamin A may help to slow the progression of retinitis pigmentosa, but as of now no single treatment is linked for curing the effects of retinitis pigmentosa as over 100 genes have been known to cause the eye disease. To learn more about retinitis pigmentosa-a genetic perspective on retina degeneration, visit our WEBSITE. If you have retinitis pigmentosa, there are ways to aid low vision to make the most out of your remaining sight. Contact Associated Retina Consultants by 602-242-4928 for an evaluation and opportunity to discuss how we can offer you tools and techniques for your best vision possible.