Disease Directory Retinitis Pigmentosa
Ophthalmological

Retinitis Pigmentosa

Also known as: RP, rod-cone dystrophy, pigmentary retinopathy

Prevalence

1 per 3,500–4,000

Onset

Childhood to early adulthood (variable by subtype)

Type

Autosomal recessive, autosomal dominant, X-linked

Gene

RPGR, RP1, RHO, USH2A (multiple)

About Retinitis Pigmentosa

Retinitis Pigmentosa is a clinically and genetically heterogeneous group of inherited retinal dystrophies characterised by progressive degeneration of rod photoreceptors followed by cone involvement, leading to night blindness, constricting visual fields, and eventual central vision loss. Over 90 causative genes have been identified, making RP the most genetically diverse of the inherited retinal diseases. It can occur as an isolated ocular condition or as part of syndromic conditions such as Usher syndrome and Bardet-Biedl syndrome.

Common Clinical Features

Night blindness (nyctalopia), often the first symptom Progressive peripheral visual field constriction (tunnel vision) Difficulty with dark adaptation Bone-spicule pigmentation on fundus examination Attenuated retinal blood vessels Waxy pallor of the optic disc Reduced or extinguished rod ERG responses Late-stage central vision loss

Clinical Trial Eligibility Tips

What to know before applying to Retinitis Pigmentosa trials.

Genetic subtype is critical; trials are often gene-specific (e.g., RPGR-targeted for X-linked RP), so a confirmed genetic diagnosis via a retinal gene panel is essential before screening.

Visual field area and ERG amplitude are standard eligibility benchmarks; retain copies of recent Goldmann or automated perimetry results.

Syndromic RP (e.g., Usher syndrome) may have separate dedicated trials; confirm whether your diagnosis is isolated or syndromic before applying.

Patient Resources

Patient Organization

Foundation Fighting Blindness

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Natural History Registry

My Retina Tracker

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Orphanet

European reference resource for rare diseases (ORPHA:791)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Retinitis Pigmentosa trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Retinitis Pigmentosa. Updated daily.

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