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Start free with EleplanRetinitis pigmentosa
ORPHA:791Disease
What it is
Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
Key facts
- Prevalence
- 1-5 / 10 000
- Age of onset
- Adolescent, Adult, Childhood
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
13- Abnormal electroretinogram
- Abnormality of retinal pigmentation
- Abnormal retinal vascular morphology
- Blindness
- Bone spicule pigmentation of the retina
- Conductive hearing impairment
- Nystagmus
- Optic atrophy
- Photophobia
- Progressive night blindness
- Retinal degeneration
- Sensorineural hearing impairment
- Visual impairment
Common30–79%
15- Abnormal central response of multifocal electroretinogram
- Abnormal full-field electroretinogram
- Attenuation of retinal blood vessels
- Cystoid macular edema
- Glaucoma
- Hyperinsulinemia
- Keratoconus
- Nyctalopia
- Ophthalmoplegia
- Optic disc drusen
- Optic disc pallor
- Peripheral visual field loss
- Photoreceptor outer segment loss on macular OCT
- Posterior subcapsular cataract
- Retinal atrophy
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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