Retinitis pigmentosa (RP) is a genetic eye condition which often runs in families. This condition is a chronic, lifelong disease that can severely impact vision.
Genetic Inheritance of Retinitis Pigmentosa
Retinitis pigmentosa has a specific genetic inheritance pattern known as X linked inheritance.
Because of this inheritance pattern, males are much more likely to have retinitis pigmentosa than females.
In an X linked inheritance pattern, the condition is only passed on the X chromosome. Females have two X chromosomes and males have only one.
Thus, a female without an X linked condition, such as retinitis pigmentosa, can be a carrier for the condition and have a son with the condition.
For a female to have retinitis pigmentosa, she must have a father with the condition and a mother who is a carrier for the condition or who has the condition.
Since family trends play such a vital role in determining the risk for developing retinitis pigmentosa, it is important to discuss any family history of the condition with your eye doctor.
Signs and Symptoms of Retinitis Pigmentosa
Retinitis pigmentosa has several early symptoms which are indicative of the condition.
Notably, loss of night vision is the earliest and most defining symptom of retinitis pigmentosa.
Other possible symptoms include glare, sensitivity to light, blurry vision, and difficulty with seeing objects in the peripheral vision.
Signs that can be seen in a dilated eye examination include the presence of bony spicules of dark pigment in the retina, attenuation of blood vessels in the retina, a pale appearance of the optic disc, and the early development of posterior subcapsular cataracts.
These signs are often identified before any symptoms are apparent. If there are signs of retinitis pigmentosa, education regarding the development of symptoms may be needed.
Treatment Options for Retinitis Pigmentosa
Currently, there are only a few true treatment options available for specific genetic variants of retinitis pigmentosa.
Otherwise, the treatment is to manage the symptoms of the condition, educate the patient on the condition and the progression, and to enroll the patient in low vision services as needed.
The available treatment for retinitis pigmentosa is called Luxturna and is a genetic therapy. This is a new treatment that aims to help replace the damaged X chromosome and therefore reduce the signs and symptoms of the disease.
Vitamin A supplementation has also been discussed as having possible benefits for the treatment of retinitis pigmentosa.
Low vision services, including services for the blind, may be needed for patients with retinitis pigmentosa as the condition progresses. These services can assist with a variety of daily activities, adapting to the new visual restrictions, and attaining certification as visually disabled.
Prognosis for Retinitis Pigmentosa
If an individual is diagnosed with retinitis pigmentosa at an early age, there will likely be several years before vision has decreased to a level of disability.
The condition will progress through the mid thirties to forties before stabilizing around the age of fifty for most individuals.
Any night vision loss, peripheral field loss, or retinal damage is likely to be permanent and not able to repair.
Current research strives to find better treatment and management for patients with retinitis pigmentosa.
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