Disease at a Glance

Retinitis pigmentosa (RP) is a group of inherited eye diseases that affect the light-sensitive part of the eye (retina). RP causes cells in the retina to die, causing progressive vision loss. The first sign of RP usually is night blindness. As the condition progresses, affected individuals develop tunnel vision (loss of peripheral vision), and eventually loss of central vision. RP may be caused by genetic changes in any of at least 50 genes. Inheritance can be autosomal dominant, autosomal recessive, or X-linked.
Estimated Number of People with this Disease
In the U.S., this disease is estimated to be fewer than


What Information Does GARD Have For This Disease?

Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:

*Data may be currently unavailable to GARD at this time.
When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Before Birth
Birth-4 weeks
1-23 months
Child Selected
2-11 years
Adolescent Selected
12-18 years
Adult Selected
19-65 years
Older Adult
65+ years
The common ages for symptoms to begin in this disease are shown above by the colored icon(s).


These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:

24 Symptoms

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Genetic Disease

Retinitis pigmentosa is a genetic disease, which means that it is caused by one or more genes not working correctly.

Disease causing variants in the following gene(s) are known to cause this disease: SCAPER, IFT88, REEP6, ARHGEF18, KIAA1549, AHI1, AGBL5, ABCA4, PRCD, PRPF3, PRPF31, PRPF8, PRPH2, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, BBS2, BEST1, CA4, CERKL, TTC8, TULP1, USH2A, CLRN1, CNGA1, CRB1, CRX, ARL6, FSCN2, HGSNAT, IMPDH1, MERTK, NR2E3, NRL, OFD1, PDE6A, PDE6B, SEMA4A, CNGB1, TOPORS, PROM1, LRAT, EYS, IDH3B, SPATA7, GUCA1B, KLHL7, SNRNP200, C2orf71, PDE6G, IMPG2, FAM161A, ZNF513, CDHR1, DHDDS, PRPF6, MAK, RBP3, C8orf37, IFT140, ZNF408, ARL2BP, NEK2, IFT172, TUB, KIZ, SLC7A14, PRPF4, RP1L1, AHR, IMPG1, DHX38, ARL3, POMGNT1



All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):


Last Updated: Nov. 8, 2021