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Medically reviewed by Alan Lucks | MD, Alan Lucks MDPC Private Practice - New York on June 1st, 2023.
Key Takeaways
- This inherited disorder stems from mutations in over 60 different genes, with autosomal recessive inheritance accounting for 50-60% of cases, autosomal dominant for 30-40%, and X-linked for 5-15%.
- Night blindness is typically the first symptom, appearing in childhood or teens, followed by progressive peripheral vision loss that creates "tunnel vision" over 10-30 years.
- Electroretinography (ERG) testing measures electrical responses in the retina and can detect the condition before visual symptoms appear, making early family screening crucial.
- Vitamin A palmitate supplementation at 15,000 IU daily may slow vision loss by 20% annually, though higher doses can cause liver toxicity and birth defects.
- Argus II retinal implants can restore basic light perception and movement detection in end-stage cases, with 89% of patients showing measurable visual improvement in clinical trials.
Retinitis pigmentosa (RP) is a group of rare inherited eye disorders that can cause progressive vision loss. It affects the retina, the light-sensitive tissue at the back of the eye, and specifically the cells called photoreceptors. RP is passed from parent to child and affects about 1 in 4,000 people.
Symptoms of Retinitis Pigmentosa
The symptoms of retinitis pigmentosa usually begin in childhood and can vary from person to person. Some common symptoms include:
Night blindness (difficulty seeing in low light)
Loss of peripheral (side) vision
Tunnel vision
Difficulty seeing colors
Sensitivity to bright lights (photophobia)
Flashes of light (photopsia)
Most people with RP experience significant vision loss by early adulthood and may be legally blind by age 40.
Causes of Retinitis Pigmentosa
Retinitis pigmentosa is caused by mutations in more than 60 different genes. These genes can be passed from parent to child in three ways:
Autosomal recessive RP: Both parents carry one copy of the mutated gene, but do not have symptoms. Their child has a 25% chance of inheriting both copies and developing RP.
Autosomal dominant RP: One parent carries the mutated gene and has a 50% chance of passing it to their child, who will develop RP.
X-linked RP: The mother carries the mutated gene on the X chromosome and has a 50% chance of passing it to her children. Sons who inherit the gene will usually have more severe symptoms than daughters.
Diagnosing Retinitis Pigmentosa
An eye doctor can diagnose retinitis pigmentosa by examining the retina and performing special tests, such as:
Ophthalmoscope: A handheld tool used to examine the retina for characteristic dark spots.
Visual field test: Measures peripheral vision by having the patient respond to lights or objects presented to the side while focusing on a central point.
Electroretinogram: Measures the retina's response to flashes of light using a special contact lens or gold foil placed on the eye.
Genetic test: Identifies the specific type of RP by analyzing a DNA sample.
If you or a family member is diagnosed with RP, it is important for all family members to undergo screening by an eye doctor.
Treatment Options for Retinitis Pigmentosa
While there is currently no cure for retinitis pigmentosa, several treatments can help slow vision loss and potentially restore some sight:
Acetazolamide: A medication that can reduce swelling in the macula (central retina) and improve vision in later stages of RP.
Vitamin A palmitate: High doses may slow the progression of RP, but should be used under close medical supervision due to potential toxicity.
Sunglasses: Protect the eyes from harmful ultraviolet rays and reduce light sensitivity.
Retinal implant: The Argus II implant, available in the US, can provide partial sight for those with late-stage RP by converting images from a camera in glasses into electrical pulses sent to the retina.
Other potential treatments under investigation include cell and tissue replacement, gene therapy, and assistive devices. Rehabilitation services can also help individuals with RP maintain their independence and quality of life.
If you or a loved one is experiencing symptoms of retinitis pigmentosa, it is important to consult an eye doctor for a proper diagnosis and to discuss available treatment options. With ongoing research and advancements in medical technology, there is hope for improving the lives of those affected by this rare eye disorder.
For more information on retinitis pigmentosa, visit:
The Bottom Line
Early genetic testing and regular ERG monitoring are essential since treatment effectiveness depends heavily on catching the disease before significant retinal damage occurs. Starting vitamin A supplementation and using UV-protective eyewear can meaningfully slow progression in many patients. If you're experiencing night vision problems or have a family history of vision loss, Doctronic can help you understand your symptoms and next steps.
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