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Retinitis Pigmentosa
Risk Factors
Family history of retinitis pigmentosa
Inherited genetic mutations affecting retinal cells
Autosomal dominant, autosomal recessive, or X-linked inheritance patterns
Presence of other inherited retinal dystrophies
Symptoms
Gradual loss of night vision (difficulty seeing in low light or darkness)
Loss of peripheral (side) vision, leading to “tunnel vision”
Difficulty adjusting from light to dark environments
Blurred or distorted central vision (in later stages)
Sensitivity to glare and bright light (photophobia)
Trouble recognizing faces or navigating in dim settings
Loss of color vision (in advanced stages)
Eventual severe vision loss or blindness (in advanced disease)
Retinitis pigmentosa (RP) and related retinal dystrophies are inherited retinal diseases that cause progressive vision loss over time. At present, there is no universal cure for RP, and treatment focuses on diagnosis, monitoring, and maximizing remaining vision. Because RP includes hundreds of genetic variants, management depends on the specific mutation and disease severity.
To date, gene therapy is available for only one specific genetic subtype of RP, while multiple clinical trials are ongoing for other variants. Identifying the underlying genetic mutation is an important step in determining eligibility for current or future treatments. Genetic testing can be performed using a noninvasive sample, such as a buccal (oral) swab.
In addition to genetic evaluation, care focuses on optimizing visual function, monitoring disease progression, and addressing associated complications such as cataracts, macular edema, or refractive issues when present. As research advances, new therapies are actively being investigated, and patients may benefit from ongoing follow-up to stay informed about emerging treatment options.