Understanding the Complexity of Retinitis Pigmentosa and the Hope for Gene Therapy
Date
April 2021
Location
Online
Description
Retinitis pigmentosa (RP) is a genetic disease that leads to the breakdown of photoreceptor cells within the retina, and ultimately causes an individual’s vision to deteriorate significantly over the course of their lifetime. The progress of research within retinal diseases has improved significantly over the past decades, especially with the identification of numerous causative genes associated with RP. Rod and cone photoreceptor cells have many distinct responsibilities within the retina and these differences are reflected during the disease progression with the earliest symptoms associated with the early cone break down. Symptoms of RP include nyctalopia, photophobia, and the visual field range diminishing. Furthermore, diagnostic tests of the disorder can be determined by an ophthalmologist, such a visual examination and electroretinogram. Genetic testing can also further support confirmation of the disorder. Currently, there is no cure for this disease, but there are therapeutic treatments that can slow the advancement of the disease. Alongside the physical impact of an RP diagnosis, the psychological implications of RP also negatively impact individuals. A specific gene of interest within this review is the fam161a gene that is associated with non-syndromic autosomal recessive RP and its potential use as a target for gene therapy is discussed.
Presentation Type
Presentation
Understanding the Complexity of Retinitis Pigmentosa and the Hope for Gene Therapy
Online
Retinitis pigmentosa (RP) is a genetic disease that leads to the breakdown of photoreceptor cells within the retina, and ultimately causes an individual’s vision to deteriorate significantly over the course of their lifetime. The progress of research within retinal diseases has improved significantly over the past decades, especially with the identification of numerous causative genes associated with RP. Rod and cone photoreceptor cells have many distinct responsibilities within the retina and these differences are reflected during the disease progression with the earliest symptoms associated with the early cone break down. Symptoms of RP include nyctalopia, photophobia, and the visual field range diminishing. Furthermore, diagnostic tests of the disorder can be determined by an ophthalmologist, such a visual examination and electroretinogram. Genetic testing can also further support confirmation of the disorder. Currently, there is no cure for this disease, but there are therapeutic treatments that can slow the advancement of the disease. Alongside the physical impact of an RP diagnosis, the psychological implications of RP also negatively impact individuals. A specific gene of interest within this review is the fam161a gene that is associated with non-syndromic autosomal recessive RP and its potential use as a target for gene therapy is discussed.