What Is Choroideremia?

Choroideremia is a rare genetic eye disease that causes the progressive loss of vision. Although the rate of vision loss varies, most individuals with this condition notice a loss of peripheral vision by age 10, and by the teenage years, only the central vision is usable. By the seventh decade, most people with the disease will eventually become fully blind.

Choroideremia affects approximately 1 in 50,000-100,000 individuals but impacts males more severely due to mutations on the X chromosome.

Vision loss due to choroideremia can be difficult to adjust to, but a low vision optometrist can help patients continue living life to the fullest.

What are the Symptoms of Choroideremia?

The first symptoms of choroideremia generally appear in early childhood, around ages 5 or 6. It initially presents with night blindness — difficulty seeing at night and in dim environments. Many patients report never being able to see stars in the night sky.

As the condition worsens, peripheral vision slowly deteriorates, leaving the affected person with “tunnel” vision by their early 20’s. Over the next few decades, the rate of vision loss slows down but patients will start to notice problems with their depth perception, color perception and central vision.

By the time the patient reaches their 50’s or 60’s, they will likely be totally blind.

What Causes Choroideremia?

Choroideremia is an X-linked recessive genetic disorder, meaning that it is inherited from an affected parent (with 2 copies of the mutated X gene) or a mother who carries the gene (with 1 copy of the X mutated gene).

This gene sits on the X chromosome, so it is more likely to impact males (who have only one copy of the X chromosome) than females. Women who carry the gene (and have only one mutated X gene) usually show no symptoms until their later years, once the healthy X chromosome begins to deactivate due to age.

How Does Choroideremia Cause Vision Loss?

Choroideremia affects the cells of the retina (the light-sensitive tissue that lines the back of the eye). The genetic mutation that causes choroideremia leads to retinal cell death by making it impossible for the cells to receive nutrients or expel waste.

As more retinal cells die, vision loss progresses.

Can Choroideremia be Treated?

Unfortunately, there isn’t yet a known cure or treatment for choroideremia. However, researchers are trying to develop sustainable gene therapies to stop the disease’s progression and possibly reverse it.

How We Help Patients With Choroideremia

At Low Vision Optometry of Central Pennsylvania, we help patients with all types of vision loss to carry out their daily tasks in an independent, fulfilling way. We offer numerous low vision aids and devices that can help with reading, using a computer, driving, watching TV, cooking and other day-to-day activities.

Low vision aids work by [maximizing] usable vision to bypass blind spots or increase the visual field. Some examples of popular low vision aids are magnifiers, full-diameter telescopes, E-Scoop glasses, side vision awareness glasses and absorptive glasses.

Our experienced low vision team will help you find the low vision aid most suited to your unique visual needs and lifestyle. To schedule a low vision consultation or learn more about our services, contact us today.

Our practice serves low vision patients from Lititz, Lancaster, York, and Hershey, Pennsylvania and surrounding communities.