Retinitis pigmentosa

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Retinitis 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

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

ABCA4Disease-causing germline mutation(s)
AGBL5Disease-causing germline mutation(s)
AHI1Disease-causing germline mutation(s)
AHRDisease-causing germline mutation(s)
ARHGEF18Disease-causing germline mutation(s)
ARL2BPDisease-causing germline mutation(s)
ARL3Disease-causing germline mutation(s)
ARL6Disease-causing germline mutation(s)
BBS1Disease-causing germline mutation(s)
BBS2Disease-causing germline mutation(s)
BEST1Disease-causing germline mutation(s)
CC2D2ADisease-causing germline mutation(s)
CDHR1Disease-causing germline mutation(s)
CERKLDisease-causing germline mutation(s)
CFAP20Disease-causing germline mutation(s)
CFAP418Disease-causing germline mutation(s)
CLRN1Disease-causing germline mutation(s)
CNGA1Disease-causing germline mutation(s)
CNGB1Disease-causing germline mutation(s)
COQ8BDisease-causing germline mutation(s)
CRB1Disease-causing germline mutation(s)
CRXDisease-causing germline mutation(s)
DHDDSDisease-causing germline mutation(s)
DHX38Disease-causing germline mutation(s)
EYSDisease-causing germline mutation(s)
FAM161ADisease-causing germline mutation(s)
FSCN2Disease-causing germline mutation(s)
FSD1LDisease-causing germline mutation(s)
GUCA1BDisease-causing germline mutation(s)
HGSNATDisease-causing germline mutation(s)
HKDC1Disease-causing germline mutation(s)
IDH3BDisease-causing germline mutation(s)
IFT140Disease-causing germline mutation(s)
IFT172Disease-causing germline mutation(s)
IFT43Disease-causing germline mutation(s)
IFT88Disease-causing germline mutation(s)
IMPDH1Disease-causing germline mutation(s)
IMPG1Disease-causing germline mutation(s)
IMPG2Disease-causing germline mutation(s)
KIAA1549Disease-causing germline mutation(s)
KIZDisease-causing germline mutation(s) (loss of function)
KLHL7Disease-causing germline mutation(s)
LRATDisease-causing germline mutation(s)
MAKDisease-causing germline mutation(s)
MERTKDisease-causing germline mutation(s)
NEK2Disease-causing germline mutation(s) (loss of function)
NR2E3Disease-causing germline mutation(s)
NRLDisease-causing germline mutation(s)
OFD1Disease-causing germline mutation(s)
PCAREDisease-causing germline mutation(s)
PDE6ADisease-causing germline mutation(s)
PDE6BDisease-causing germline mutation(s)
PDE6GDisease-causing germline mutation(s)
POMGNT1Disease-causing germline mutation(s)
PRCDDisease-causing germline mutation(s)
PROM1Disease-causing germline mutation(s)
PRPF3Disease-causing germline mutation(s)
PRPF31Disease-causing germline mutation(s)
PRPF4Disease-causing germline mutation(s) (loss of function)
PRPF6Disease-causing germline mutation(s)
PRPF8Disease-causing germline mutation(s)
PRPH2Disease-causing germline mutation(s)
RBP3Disease-causing germline mutation(s)
RDH12Disease-causing germline mutation(s)
REEP6Disease-causing germline mutation(s) (loss of function)
RGRDisease-causing germline mutation(s)
RHODisease-causing germline mutation(s)
RLBP1Disease-causing germline mutation(s)
RNU4-2Disease-causing germline mutation(s)
RNU6-1Disease-causing germline mutation(s)
RNU6-2Disease-causing germline mutation(s)
RNU6-8Disease-causing germline mutation(s)
RNU6-9Disease-causing germline mutation(s)
ROM1Disease-causing germline mutation(s)
RP1Disease-causing germline mutation(s)
RP1L1Disease-causing germline mutation(s)
RP2Disease-causing germline mutation(s)
RP9Disease-causing germline mutation(s)
RPE65Disease-causing germline mutation(s)
RPGRDisease-causing germline mutation(s)
SAGDisease-causing germline mutation(s)
SAXO6Disease-causing germline mutation(s)
SCAPERDisease-causing germline mutation(s)
SEMA4ADisease-causing germline mutation(s)
SLC7A14Disease-causing germline mutation(s)
SNRNP200Disease-causing germline mutation(s)
SPATA7Disease-causing germline mutation(s)
TMEM216Disease-causing germline mutation(s) (loss of function)
TOPORSDisease-causing germline mutation(s)
TTC8Disease-causing germline mutation(s)
TUBDisease-causing germline mutation(s) (loss of function)
TULP1Disease-causing germline mutation(s)
USH2ADisease-causing germline mutation(s)
ZNF408Disease-causing germline mutation(s) (loss of function)
ZNF513Disease-causing germline mutation(s)
CA4Candidate gene tested
IDH3ACandidate gene tested

ICD-10 codes

H35.5filed under a broader ICD-10 category — shared with 49 other rare diseases

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

GARD 5694MEDDRA 10038914MESH D012174MONDO 0019200OMIM 153870OMIM 180100OMIM 180104OMIM 180105OMIM 180210OMIM 268000OMIM 268025OMIM 268060OMIM 300029OMIM 300155OMIM 300424OMIM 300605OMIM 312600OMIM 312612OMIM 400004OMIM 600059OMIM 600105OMIM 600132OMIM 600138OMIM 600852OMIM 601414OMIM 601718OMIM 602594OMIM 602772OMIM 604232OMIM 604393OMIM 606068OMIM 607921OMIM 608133OMIM 608380OMIM 609913OMIM 609923OMIM 610282OMIM 610359OMIM 610599OMIM 611131OMIM 612095OMIM 612165OMIM 612572OMIM 612712OMIM 612943OMIM 613194OMIM 613341OMIM 613428OMIM 613464OMIM 613575OMIM 613581OMIM 613582OMIM 613617OMIM 613660OMIM 613731OMIM 613750OMIM 613756OMIM 613758OMIM 613767OMIM 613769OMIM 613794OMIM 613801OMIM 613809OMIM 613810OMIM 613827OMIM 613861OMIM 613862OMIM 613983OMIM 614180OMIM 614181OMIM 614494OMIM 614500OMIM 615233OMIM 615434OMIM 615565OMIM 615725OMIM 615780OMIM 615922OMIM 616188OMIM 616394OMIM 616469OMIM 616544OMIM 616562OMIM 617023OMIM 617123OMIM 617304OMIM 617433OMIM 617460OMIM 617781OMIM 617871OMIM 618173OMIM 618195OMIM 618220OMIM 618345OMIM 618613OMIM 618697OMIM 618826OMIM 618955OMIM 619007OMIM 619614OMIM 619845OMIM 620102OMIM 620228OMIM 621560OMIM 621561OMIM 621562OMIM 621563OMIM 621564OMIM 621587UMLS C0035334

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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