Retinitis Pigmentosa
An inherited disease that slowly narrows vision over time
Quick Facts
- Type: Inherited retinal disease
- Early sign: Night blindness
- Pattern: Gradual loss of side (peripheral) vision
- Cause: Gene changes affecting the retina
Overview
Retinitis pigmentosa (RP) is a group of inherited eye diseases that gradually damage the retina, the light-sensing layer at the back of the eye. The retina contains two main types of light-sensing cells: rods, which work in dim light and at the edges of vision, and cones, which handle detail and color in bright light. In RP, the rods usually break down first, which is why night vision and side vision are affected early.
RP is a slowly progressive condition that often begins in childhood or young adulthood and worsens over years to decades. The rate of progression and the degree of vision loss vary widely from person to person, even within the same family. While there is no cure for most forms, support, monitoring, and emerging therapies for certain genetic types can help people maintain function and independence.
Symptoms
Symptoms usually develop gradually and worsen over time. They include:
- Night blindness: Difficulty seeing in dim light or at night, often the first symptom.
- Loss of side (peripheral) vision: Leading to a narrowing, or "tunnel," field of view.
- Trouble adjusting between bright and dim lighting
- Difficulty with tasks in low light
- In later stages, loss of central vision and color vision in some people
Because the changes are slow, early symptoms can be subtle. Bumping into objects, difficulty in dark theaters, or trouble seeing at dusk may be early clues that warrant an eye exam.
Causes
RP is caused by genetic changes that affect the retina:
- Gene mutations: Many different genes can cause RP, each important for the function or survival of retinal cells.
- Inheritance patterns: RP can be passed on in autosomal recessive, autosomal dominant, or X-linked patterns, which affects who in a family may be affected.
- Associated syndromes: In some people RP is part of a wider syndrome, such as Usher syndrome, which also affects hearing.
In some cases there is no known family history, and a new gene change or an unidentified inheritance pattern is responsible.
Risk Factors
- A family history of retinitis pigmentosa or inherited retinal disease
- Parents who are carriers of a relevant gene change
- Having a related condition such as Usher syndrome
Diagnosis
An eye specialist diagnoses RP with examination and specialized tests:
- Dilated eye exam: May show characteristic pigment changes in the retina.
- Visual field testing: Maps the loss of side vision.
- Electroretinogram (ERG): Measures the electrical responses of the retina, which are reduced in RP.
- Retinal imaging: Photographs and OCT scans assess the retina's structure.
- Genetic testing: Identifies the gene involved, which aids counseling and may determine eligibility for gene-specific treatment.
Treatment
There is no cure for most forms of RP, but several approaches help preserve function and quality of life.
- Low-vision aids and rehabilitation: Magnifiers, lighting strategies, mobility training, and assistive technology help people stay independent.
- Gene therapy: An approved treatment exists for retinal disease caused by changes in a specific gene (RPE65); research into therapies for other genetic forms is ongoing.
- Protective measures: Sunglasses to shield the eyes from bright light; some clinicians discuss specific vitamin guidance, which should only be followed under medical supervision.
- Managing related problems: Treating cataracts or swelling of the macula if they occur, and addressing hearing loss in Usher syndrome.
Regular monitoring helps track changes and manage complications over time.
Living With and Family Planning
RP cannot currently be prevented because it is inherited, but several steps help:
- Genetic counseling and testing for affected individuals and families
- Regular eye exams to monitor changes and treat complications early
- Vision rehabilitation and assistive technology to maintain independence
- Eye protection from bright sunlight
- Support services and connecting with patient organizations
When to See a Doctor
See an eye specialist if you or your child has:
- Difficulty seeing in dim light or at night
- Trouble with side vision or frequently bumping into objects
- A family history of retinitis pigmentosa or inherited retinal disease
While RP itself progresses slowly, a sudden change in vision, new flashes and floaters, or a curtain over the vision can signal a separate, urgent retinal problem and should be evaluated promptly.
Frequently Asked Questions
What is retinitis pigmentosa?
It is a group of inherited diseases that slowly damage the light-sensing cells of the retina. The rods, which handle dim-light and side vision, are usually affected first, leading to night blindness and gradual loss of peripheral vision.
What is the first sign of RP?
Night blindness, or difficulty seeing in dim light, is often the earliest symptom. Over time, side vision narrows, leading to a tunnel-like field of view, and some people eventually lose central and color vision.
Is retinitis pigmentosa inherited?
Yes. It is caused by gene changes and can be passed down in autosomal recessive, autosomal dominant, or X-linked patterns. Sometimes it occurs without a known family history. Genetic testing and counseling can clarify the type.
Can retinitis pigmentosa be cured?
There is no cure for most forms, but low-vision aids, rehabilitation, and regular monitoring help people stay independent. An approved gene therapy helps one specific genetic form, and research into other treatments is ongoing.
How fast does RP progress?
Progression varies widely, often over many years to decades, even among people in the same family. Some keep useful vision for a long time, while others lose more vision. Regular eye exams help track changes and manage complications.
References
- National Eye Institute (NEI). Retinitis pigmentosa.
- MedlinePlus Genetics, U.S. National Library of Medicine. Retinitis pigmentosa.
- American Academy of Ophthalmology. Retinitis pigmentosa.
- Foundation Fighting Blindness. Retinitis pigmentosa.