What is mitochondrial retinal disease and optic neuropathy?

Mitochondrial retinal disease and optic neuropathy may occur when mitochondria in the photoreceptors and nerves in the eye are disrupted. As the retina and optic nerve use a great amount of energy, it’s not uncommon for vision to be affected by mitochondrial disease.

Symptoms of mitochondrial retinal disease and optic neuropathy

Symptoms may range from mild to severe and vary depending on which cells in the eye have disrupted mitochondrial function. Symptoms may be progressive and directly caused by the underlying mitochondrial disease, or may be temporary due to secondary causes, such as fatigue.

• Night blindness (nyctalopia)
• Blurred vision
• Loss of peripheral vision
• Sensitivity to light (photophobia)

Testing and diagnosis of mitochondrial retinal disease and optic neuropathy

You or your child will have an eye exam and vision testing. Depending on your specific symptoms, other tests may include:

• Optical coherence tomography (OCT) and fundus photographs to check for damage to the retina
• Electroretinography (ERG) to evaluate the response to stimulation of the rod and cone photoreceptor cells of the retina

Treatment for mitochondrial retinal disease and optic neuropathy

Currently, there is no effective treatment or cure for mitochondrial retinal or optic neuropathy disorders. Antioxidant therapies may be prescribed for some causes of mitochondrial retinal or optic neuropathy disorders. You or your child may be prescribed corrective lenses to improve vision. Consultation with therapist who treats a low vision may be helpful to identify effective adaptive aids and devices. Clinical trials may be discussed that test novel therapies to target mitochondrial retinal or optic neuropathy disorders.

Follow-up care for mitochondrial retinal disease and optic neuropathy

Ophthalmology evaluations on an annual basis are important to monitor disease progression and optimize your or your child’s care, but their frequency may be modified based on the severity of the symptoms. A visual individualized education program may be helpful to optimize function based on the specific symptoms present.