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.
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