Other Inherited Retinal Diseases

Inherited retinal disease is an umbrella term for several rare genetic disorders that can cause severe or complete vision loss.

Retinitis Pigmentosa

In retinitis pigmentosa, the photoreceptor cells (rod and cones) contained in the retina deteriorate, which impacts how the retina responds to light. The retina is unable to function properly and, as a result, vision can be lost over time. While total blindness is not common, patients with retinitis pigmentosa may experience a slow, but steady loss of peripheral vision, loss of central vision, worsening night vision, or problems with color perception.

There is currently no official treatment for retinitis pigmentosa, but the condition can be managed to a certain degree with low vision aids and vision rehabilitation therapy. Because it is a genetic disorder, there are several clinical trials that are dedicated to understanding and developing a treatment for retinitis pigmentosa.

For more information, please visit the American Society of Retina Specialists website.

Juvenile Retinoschisis

Juvenile retinoschisis is a rare eye condition that almost exclusively occurs in male children. Also known as X-linked retinoschisis, the disease is inherited through a recessive genetic mutation. Patients with juvenile retinoschisis experience vision deterioration early in life that later stabilizes. However, vision often deteriorates even further in late adulthood as part of a second wave. Common symptoms of this condition include abnormal eye movement and cataracts.

The condition can result in some severe complications, including retinal detachment, vitreous hemorrhaging, and total blindness.

For more information, please visit the American Society of Retina Specialists website.

Choroideremia

Choroideremia is a condition that occurs when the cells of the retina, as well as the choroid blood vessels, begin to atrophy. The condition appears primarily in males. Symptoms of choroideremia include night blindness and tunnel vision. As the disease progresses, it can lead to a loss of central vision. Although there is no known cure, there are many resources and services available to help patients with choroideremia. Genetic counseling is also recommended to families who have a history of this condition.

Achromatopsia

Achromatopsia is a rare hereditary eye condition in which there is a limited number or a total absence of functioning photoreceptors in the retina. This affects color vision and light sensitivity, which can lead to decreased vision. The affected person cannot perceive color at all and can only see shades of black, white, and gray. Some patients experience severe visual impairment while others may still retain some visual functionality. Although there is no cure for achromatopsia, there are some clinical trials involving gene replacement therapy that may eventually lead to a treatment.

Cone-Rod Dystrophy

In cone-rod dystrophy, the light-sensitive cone and rod cells in the retina deteriorate, leading to progressive vision loss over time. This condition typically manifests in childhood through symptoms such as decreased visual acuity and increased light sensitivity. Patients also typically have blind spots, poor peripheral vision, night blindness, and poor color perception. Many individuals with cone-rod dystrophy are considered legally blind by the time they reach early adulthood. Currently, there is no treatment available that can cure cone-rod dystrophy, but the disease can be managed with the use of low-vision aids.

As with many hereditary retinal diseases, there are clinical trials available to explore possible future treatment options. Some possible treatments in the future may include stem cell therapy, retinal implants, and gene therapy.