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CNGB1

Disease Category: autosomal recessive

Patient Population:

Known Clinical Trials: None known

Treatment Options:  

Strategies to Preserve Eye Health: 

Institution(s) Conducting Research: 

A FACE OF RP

persons brown eyes in close up photograp

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BRIEF DESCRIPTION

Retinitis pigmentosa (RP) caused by mutations in the cyclic nucleotide-gated channel β1 (CNGB1) gene is a type of inherited eye disease that causes progressive vision loss. RP is a major cause of blindness. Mutations in the CNGB1 gene cause about 4% of autosomal recessive RP cases. CNGB1 encodes the beta-subunit of the rod cGMP-gated channel. RP is progressive, but it's slow, and most patients never completely lose their vision. Due to limited peripheral vision, many patients are considered "legally blind".

 

Symptoms include night blindness, reduced peripheral vision, loss of central vision, which can affect reading, loss of color vision, sensitivity to bright light. At this time, there are very limited treatment options for RP, but vision aids and rehabilitation programs can help. Gene augmentation therapy shows promise for treating inherited retinal degenerations 

IN THE NEWS

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