The cover of 'Rare Disease Series #10 RETINITIS PIGMENTOSA'


A man's face looking at the words saying "Genetic variants in more than 60 genes can cause the disease."
Retinitis Pigmentosa (RP) is a rare genetic disorder characterized by progressive vision loss from dying cells in the retina.

Since there are various types of RP, genetic variants that occur in more than 60 genes can cause the disease.


Map background with the silhouette of a boy and words saying "1 in 3,000 to 1 in 5,000 people worldwide."


The prevalence of RP is 1 in 3,000 to 1 in 5,000 worldwide.


Symptoms of RP are usually present from childhood. Since there are many types of RP, the severity and rate of worsening of symptoms vary from person to person


Six symptoms of Retinitis pigmentosa: Loss of night vision, Gradual loss of side vision(tunnel vision), Loss of central vision, Problems with color vision, photophobia, photopsia


RP is diagnosed based on tests using an ophthalmoscope, electroretinogram, and visual field test. Then, the type of RP is confirmed with genetic tests.


With a special drop to widen your pupil, the doctor can look into your eye. If there are dark spots on your retina, there are possibilities of having RP.


Using a special contact lens or a film of gold foil, the doctor can measure how your retina responds to light.

Visual Field Test

With a tabletop machine that shows objects or lights on the side of the vision, it can create a map of your visual sight.

By using genetic tests, a causal gene can be detected and selected to give an accurate diagnosis.


Circle shape to explain that Retinitis pigmentosa can inherit in autosomal recessive, autosomal domimant, and X-linked pattern, depending on the causative gene.
Since there are more than 60 different RP types, three different inheritance patterns are possible depending on the type; X-linked, autosomal recessive, and autosomal dominant.


  1. ic-treatments-black@3x-3
  2. RP is currently hardly curable. However, there are available treatments that aim to slow the progression of the disease.

    Special glasses (or sunglasses) A light amber filter can be added to eyeglasses and help improve tolerance of bright lights.

Vitamin A

Some research suggests that high dosages of vitamin A can help slow the disease's progression in some people. Based on recent findings, vitamin A palmitate is recommended to RP patients.