Summary: Retinitis pigmentosa (RP) causes peripheral and night vision loss whereas central vision is relatively preserved until late in the disease process.
In contrast to macular degeneration, retinitis pigmentosa (RP) causes peripheral and night vision loss whereas central vision is relatively preserved until late in the disease process. RP is a highly penetrant genetic disease with autosomal dominant, autosomal recessive and X-linked inheritance.
We are focusing on identifying genes causing autosomal dominant form of RP and elucidating underlying pathogenic mechanisms. We show that missense mutations in CAIV , a gene not expressed in retina including photoreceptors or RPE, are responsible for an autosomal dominant form of retinitis pigmentosa (RP17). By identifying new genes for RP, we hope to understand how and why rod and cone photoreceptors die in RP and provide in sight to therapies and treatment.
(858) 534-6290
The information contained in this online site is intended to provide accurate and helpful health information for the general public. It is made available with the understanding that the author and publisher are not engaged in rendering medical, health, psychological, or any other kind of personal professional services on this site. The information should not be considered complete and does not cover all diseases, ailments, physical conditions or their treatment. It should not be used in place of a call or visit to a medical, health or other competent professional, who should be consulted before adopting any of the suggestions in this site or drawing inferences from it.
The information about drugs contained on this site is general in nature. It does not cover all possible uses, actions, precautions, side effects, or interactions of the medicines mentioned, nor is the information intended as medical advice for individual problems or for making an evaluation as to the risks and benefits of taking a particular drug.
The operator(s) of this site, and the publisher, specifically disclaim all responsibility for any liability, loss or risk, personal or otherwise, which is incurred as a consequence, directly or indirectly, of the use and application of any of the material on this site.
Click Here To Accept