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PRPF3

Disease Category: autosomal dominant

Patient Population: 

Active Clinical Trials: none found

Treatment Options: 

Strategies to Preserve Eye Health: 

Institution(s) Conducting Research:  

A FACE OF RP

Eyes

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TBD

BRIEF DESCRIPTION

Mutations in the pre-mRNA processing factor 3 (PRPF3) gene are associated with autosomal dominant retinitis pigmentosa (adRP), a hereditary retinal disease that causes progressive vision loss and eventually blindness.

Pre-mRNA processing factor. Mutations in PRPF3 cause mis-splicing of genes involved in retina-specific functions. Mutations in PRPF3 are linked to 15–20% of adRP cases.

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