Retinitis Pigmentosa
What is Retinitis Pigmentosa?
Retinitis Pigmentosa (RP) is a genetic retinal illness that causes vision loss. Retinitis Pigmentosa can be caused by over two hundred and sixty different genetic variants. Retinitis Pigmentosa can be inherited in autosomal recessive, autosomal dominant, digenic and X-linked patterns. The most common cause of RP are mutations in the Rhodopsin (Rho) gene, these typically cause autosomal dominant RP, and make up about 10% of all RP cases. Mutations in the USH2a gene and RPGR gene are also common causes of RP.
Clinical Manifestations
Retinitis Pigmentosa typically causes visual impairment in adults, however symptoms can sometimes start in childhood or adolescence. Night blindness and loss of peripheral vision can be early symptoms of Retinitis Pigmentosa. Later in RP decreases central vision can develop.
Retinitis Pigmentosa Risk Factors
- Family history of Retinitis Pigmentosa
Diagnosis
Retinitis Pigmentosa is diagnosed with a dilated eye exam by an ophthalmologist or optometrist. At Genetic Eye Therapies we leverage advanced testing techniques, multi-modal retinal imaging and retinal electrophysiologic test to monitor the status of the retina in people with RP.
Genetic testing in people with Retinitis Pigmentosa is important for many reasons, genetic testing provides a definitive genetic diagnosis and at times information on how a disease can progress over time. A genetically confirmed diagnosis may also be used to guide dietary recommendations for patients and may be important for treatment with future gene therapies.
Treatment
In 2017, the FDA approved the first gene therapy for a genetic retinal disease voretigene neparvovec-rzyl. Voretigene neparvovec-rzyl is used to treat biallelic RPE65-mediated retinal illness. As a result of the powerful success of this treatment there is renewed interest in gene therapy for eye disease. Fortunately, now there are over 30 gene therapy clinical trials currently that aim to treat different types of Retinitis Pigmentosa.
In addition to classical gene therapy that works by introducing a functional copy of the gene back into a person’s cells, gene editing approaches using CRISPR-Cas9, optogenetics approaches, and stem/progenitor cell-based transplants are currently being tested in clinical trials. Please call to schedule a visit at our office or virtually if you would like to learn more about these exciting developments in the treatment of RP.
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Location
2895 Loma Vista Rd, Suite C
Ventura, CA 93003
Hours
Monday-Friday
9 AM - 5 PM
Contact
Info@GeneticEyeTherapies.com
Phone: 805-413-5557 Fax: 805-764-8576