Retinitis Pigmentosa
Basics
Description
- An eye disease in which progressive damage to the retina occurs with gradual loss of peripheral vision that eventually leads to significant visual impairment; signs often seen in childhood, but severe vision problems do not develop until adulthood
- Characterized by poor night vision, constricted visual fields, bone spicule-like pigmentation of the fundus, and electroretinographic evidence of photoreceptor cell dysfunction
- System(s) affected: nervous
- Synonym(s): rod-cone dystrophy; retinal dystrophy
Epidemiology
Incidence
- Predominant age
- X-linked retinitis pigmentosa (RP) has the earliest onset of the major hereditary types; many X-linked patients are legally blind by age 30 years.
- Autosomal dominant RP has a later onset than autosomal recessive or X-linked–recessive RP.
- Leber congenital amaurosis, which is a variant of RP, presents at birth.
- Late-onset RP typically is asymptomatic and unrecognized until age 40 to 50 years.
- Predominant sex: male > female
Prevalence
Affects ~1/4,000 people in the United States
Pediatric Considerations
Leber congenital amaurosis characterized by reduced vision from birth and impaired electroretinogram (ERG) responses from both cones and rods.
Geriatric Considerations
Late-onset RP is asymptomatic and generally unrecognized until >40 years of age.
Etiology and Pathophysiology
- Mutations in the rhodopsin gene account for ~30% of cases of autosomal dominant RP.
- Another 4–6% of autosomal dominant RP is caused by a mutation in the gene for a photoreceptor protein peripherin/RDS.
Genetics
- Autosomal dominant: 20%
- Autosomal recessive: 37%
- X-linked recessive: 4.5%
- Sporadic: 38.5%
Risk Factors
Family history
General Prevention
- Genetic counseling
- No conclusive evidence demonstrates that the amount of light modifies the course of RP. A study in which one eye was covered with an opaque lens did not show any difference in disease progression compared with the fellow eye.
- Ultraviolet (UV)-absorbing sunglasses and brimmed hats are recommended when patients are at the beach or in the snow.
Commonly Associated Conditions
With systemic disorders
- Usher syndrome: RP and congenital sensorineural hearing impairment
- Laurence-Moon-Biedl syndrome (also called Bardet-Biedl syndrome): autosomal recessive disorder associated with retinal dystrophy, mental retardation, obesity, hypogonadism, and postaxial polydactyly
- Cockayne syndrome: autosomal recessive disorder in which children at the age of 1 to 2 years present with retinal dystrophy, sensorineural deafness, cerebellar dysfunction, dementia, and UV light photosensitivity
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Citation
Domino, Frank J., et al., editors. "Retinitis Pigmentosa." 5-Minute Clinical Consult, 33rd ed., Wolters Kluwer, 2025. Medicine Central, im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/116895/all/Retinitis_Pigmentosa.
Retinitis Pigmentosa. In: Domino FJF, Baldor RAR, Golding JJ, et al, eds. 5-Minute Clinical Consult. Wolters Kluwer; 2025. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/116895/all/Retinitis_Pigmentosa. Accessed November 8, 2024.
Retinitis Pigmentosa. (2025). In Domino, F. J., Baldor, R. A., Golding, J., & Stephens, M. B. (Eds.), 5-Minute Clinical Consult (33rd ed.). Wolters Kluwer. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/116895/all/Retinitis_Pigmentosa
Retinitis Pigmentosa [Internet]. In: Domino FJF, Baldor RAR, Golding JJ, Stephens MBM, editors. 5-Minute Clinical Consult. Wolters Kluwer; 2025. [cited 2024 November 08]. Available from: https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/116895/all/Retinitis_Pigmentosa.
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