What is Retinitis Pigmentosa (RP)?

by Dec 20, 2021Eye Disease, Systemic Disease

A fairly rare genetic eye condition, retinitis pigmentosa is not a household name, but it has large impacts on families it affects.

 

What Causes Retinitis Pigmentosa?

Retinitis pigmentosa is a genetic disease that is passed down to males on the x chromosome from their mother.

It is possible, but much less likely, that a female can develop retinitis pigmentosa since the condition would require an affected father and carrier mother.

The mutation of the X chromosome results in differently formed proteins and that can cause a multitude of symptoms.

 

What are the Signs of Retinitis Pigmentosa?

Retinitis pigmentosa can result in several signs that are observed in an exam by an eye doctor.

There are three signs which form a traditional triad of the signs in the back of the eye on the retina.

The classic triad of retinitis pigmentosa is bony spicules, optic nerve pallor, and arterial attenuation.

Bony spicules are clumps of pigmented cells in the periphery of the retina. Optic nerve pallor occurs when the nerve does not receive appropriate blood flow for an extended period of time.

Arterial attenuation occurs when small blood vessels in the back of the eye become narrow due to thickening of the artery walls.

 

What are the Symptoms of Retinitis Pigmentosa?

While the signs of retinitis pigmentosa can only be observed in an eye exam, there are symptoms which are observed by the individual with the condition.

An early symptom of retinitis pigmentosa is decreased vision at night. Also called nyctalopia, night blindness is a common finding with retinitis pigmentosa.

Since retinitis pigmentosa affects the rod cells, which are responsible for night vision, early in the course of the disease the loss of night vision is among the first symptoms.

Another symptom of retinitis pigmentosa is a loss of peripheral vision. Retinitis pigmentosa does not affect the center of the vision in all but the most severe cases.

Since the vision loss is in the periphery, a constricted visual field or tunnel vision may occur.

Associated with the peripheral vision loss, retinitis pigmentosa may also cause issues with mobility.

When the visual field becomes very narrow, it can become difficult to navigate around obstacles and travel independently.

 

What are Treatments for RP?

There is not currently a known cure for retinitis pigmentosa.

The treatments for retinitis pigmentosa include genetic treatment, vitamin supplementation, and low vision therapy.

 

Genetic Therapy Options

In some cases, genetic therapy can improve the prognosis and preserve vision longer. Currently, there is only one FDA approved genetic therapy for retinitis pigmentosa.

While research is continuing, there remains no permanent cure for the symptoms that occur with the advancement of the condition.

 

How to Get a Diagnosis and Treatment for Retinitis Pigmentosa

If you suspect that you have retinitis pigmentosa, either due to symptoms or a close relative with the condition, it is important to receive regular eye exams.

A diagnosis of retinitis pigmentosa can be made by your eye doctor following an eye exam and any additional testing required.

If your eye doctor does not specialize in the treatments such as low vision, the doctor may refer to a low vision specialist in the area.

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Our eye doctors at Nittany Eye Associates excel in the prescription of contact lenses, glasses and various eye diseases. Call us at (814) 234-2015 or schedule an appointment online with one of our highly trained optometrists if you would like to learn more about retinitis pigmentosa.  Be sure to visit Nittany Eye Associates where we always put the care of you and your family first at our convenient locations in State College, Matilda, Spring Mills, Tyrone, and Lock Haven PA areas.

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