What's retinitis pigmentosa?
Retinitis pigmentosa is not one disease but a group of inherited conditions in which the light-sensing cells of the retina (the photoreceptors) slowly degenerate. The rod cells, which handle night and side vision, are usually affected first. It is genetically very diverse: faults in any of more than 80 different genes can cause it, and it can be inherited in dominant, recessive, or X-linked patterns.
| Also indexed as | ORPHA:791, MONDO:0019200 |
|---|---|
| Features mapped | 12 |
| Treatments mapped | 4 |
| Published sources | 12 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Progressive night blindness
Difficulty seeing in dim light or at night (night blindness) is usually the first symptom, often starting in childhood or adolescence, because the rod cells that handle low-light vision fail first.
Abnormal electroretinogram
An electroretinogram (ERG) measures the electrical responses of the retina to light and gives an objective picture of how the retina is working. In retinitis pigmentosa these responses are reduced, and the test is used to judge how severe the disease is and to guide treatment.
Spicular pigmentation of the retina
On examination of the back of the eye, clumps of pigment in a branching pattern called bone-spicule pigmentation are a classic sign of retinitis pigmentosa, along with pale optic discs and narrowed retinal blood vessels.
Retinal degeneration
In retinitis pigmentosa the light-sensing photoreceptor cells of the retina are lost, and the supporting layer beneath them (the retinal pigment epithelium) wastes away. This breakdown is what gradually reduces vision.
Peripheral visual field loss
Retinitis pigmentosa can narrow the edges of your vision (the peripheral visual field), so that over time you see as if through a shrinking window. In the X-linked form this narrowing can progress rapidly and may eventually lead to blindness.
Cystoid macular edema
Cystoid macular edema is a build-up of fluid in small cyst-like spaces at the center of the retina (the macula). In retinitis pigmentosa it is one of the treatable causes of reduced vision and can affect up to about half of people with the condition.
Optic disc pallor
On an eye exam, the optic disc in retinitis pigmentosa often looks pale, sometimes described as waxy. Along with narrowed retinal vessels and the bone-spicule pigment, this pale disc is part of the classic triad doctors look for when diagnosing the condition.
Abnormal full-field electroretinogram
An electroretinogram (ERG), a test that measures the electrical response of the retina to light, is reduced or absent and is one of the key tests used to confirm the diagnosis and track progression.
Color vision defect
As retinitis pigmentosa progresses and affects the cone cells, color vision can become impaired, often noticed first as difficulty distinguishing blues and yellows. This usually develops later than the night-vision and side-vision problems.
Reduced visual acuity
Sharpness of vision (visual acuity) can decline, especially as the disease advances or if the central retina becomes involved. Low-vision aids and support help many people keep reading and getting around.
Nyctalopia
Trouble seeing in dim light or at night (night blindness) is often one of the earliest symptoms in retinitis pigmentosa, and it can begin as early as the first decade of life in the X-linked form.
Attenuation of retinal blood vessels
The blood vessels of the retina become thin and narrowed (attenuated) in retinitis pigmentosa as the retina degenerates and needs less blood supply. Narrowed retinal vessels are one of the hallmark findings seen when the back of the eye is examined.
How it is diagnosed
Retinitis pigmentosa
Diagnosed using: electroretinography.
“Retinitis pigmentosa (RP) is a progressive rod–cone dystrophy and the most common inherited retinal disease worldwide. Electroretinography (ERG) provides an objective measure of retinal function and is essential for staging severity and guiding therapy.”
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
vitamin A palmitate supplementation
Vitamin A palmitate supplementation has been associated with a slower loss of retinal function in some people with retinitis pigmentosa, though the evidence is limited and it is not effective for everyone.
Used to help with: Retinitis pigmentosa.
“A vitamin A palmitate supplement was associated with a slower loss of cone electroretinogram amplitude in children with retinitis pigmentosa.”
voretigene neparvovec (Luxturna)
Voretigene neparvovec (Luxturna) is an approved gene therapy for vision loss caused by inheriting changes in both copies of the RPE65 gene, a form of inherited retinal dystrophy. It does not treat retinal degeneration caused by other genes.
Used to help with: Retinitis pigmentosa.
“Both of these biallelic RPE65-associated conditions can be treated with an ocular gene therapy known as Luxturna (Voretigene neparvovec-rzyl) but, owing to different pathomechanisms, autosomal dominant forms of RPE65-associated IRDs do not have an approved therapy.”
voretigene neparvovec
Voretigene neparvovec (Luxturna) is a gene therapy specifically for inherited retinal dystrophy caused by changes in both copies of the RPE65 gene. Given as a one-time injection beneath the retina, it delivers a working copy of RPE65 to retinal cells, aiming to restore part of the eye's visual cycle. It is approved only for people with confirmed biallelic RPE65 mutations who still have enough living retinal cells.
Used to help with: Retinitis pigmentosa.
“A single-dose subretinal injection of voretigene neparvovec administered in each eye is approved in several countries worldwide for the treatment of vision loss in adult and paediatric patients with confirmed biallelic RPE65 mutation-associated inherited retinal dystrophy (IRD) and with sufficient viable retinal cells.”
carbonic anhydrase inhibitor
Carbonic anhydrase inhibitors are the medicines with the strongest evidence for treating cystoid macular edema (fluid build-up in the central retina) that occurs in retinitis pigmentosa and other inherited retinal dystrophies. They can be taken by mouth or as eye drops.
Used to help with: Retinitis pigmentosa.
“Oral and topical IACs are effective in the treatment of CME secondary to IRD.”
What changes how it shows up
Carrying the genetic change is not the whole story. The factors below are described in the research mapped here as changing whether, or how strongly, the condition appears. They modulate how the genotype is expressed; they do not, on their own, cause or cure it.
X-linked inheritance (RPGR)
Some retinitis pigmentosa is X-linked, most often caused by changes in the RPGR gene. This X-linked form tends to begin early, sometimes in the first decade of life, with night-vision trouble and narrowing of the side vision, and it can progress faster than other forms.
Described as modulating: Retinitis pigmentosa.
“Retinitis pigmentosa GTPase regulator (RPGR) gene variants are the predominant cause of X-linked retinitis pigmentosa (XLRP) and a common cause of cone-rod dystrophy (CORD). XLRP presents as early as the first decade of life, with impaired night vision and constriction of peripheral visual field and rapid progression, eventually leading to blindness.”
syndromic RP (Usher syndrome, autosomal recessive)
Retinitis pigmentosa can occur as part of a syndrome that also affects other organs. In Usher syndrome, an autosomal recessive condition, hearing loss that is present at or near birth is followed by progressive vision loss caused by retinitis pigmentosa.
Described as modulating: Retinitis pigmentosa.
“USH is an autosomal recessive disorder clinically characterized by partial or complete congenital sensorineural hearing loss followed by progressive vision loss due to retinitis pigmentosa.”
How to read the evidence labels
Where this comes from
This guide is built from 12 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.