Retinitis Pigmentosa

Risk Factors
Retinitis pigmentosa are hereditary or genetic diseases that affect vision and general progress over time. Often there is a family history.
Retinitis pigmentosa and retinal dystrophies represent rare causes of visual loss. Most of these fall into the category of inherited retinal diseases and result in progressive loss of vision. While some types are less severe, the worst types can result in total loss of vision. RP has over 400 variants, each caused by different genetic mutations. To date there is only one gene therapy based treatment for one variant of RP caused by mutations in the RPE 65 gene family. Multiple clinical trials are in progress to treat other types of RP. Our clinic has been proactive in screening for the type of gene mutation present using an oral (buccal mucosa) swab. We also focus on optimizing vision of RP patients.