Retinal dystrophy is an inherited group of disorders that result in vision loss. Retinal dystrophy causes the light-sensitive cells that make up the retina, known as photoreceptors, to gradual fade and die. The photoreceptors normally capture the light and send a visual message to the brain through the optic nerve. But as the special photoreceptor cells die, the retina cannot work properly and cannot send the visual information to the brain. The most common form of retinal dystrophy is retinitis pigmentosa, a condition that leads to vision over time.
The most common symptoms of retinal dystrophy are tunnel vision, loss of central vision, night blindness, increased sensitivity to light, and reduced ability to adjust to light changes. These symptoms develop gradually over time, with age of onset differing based on the condition. Retinal dystrophy is diagnosed using an eye exam that measures the patient’s clarity of vision, strength of eye muscles, reaction to light, and ability to perform daily tasks. Retinal dystrophy is divided into two main subgroups: macular dystrophy responsible for loss of central vision, and cone dystrophy responsible for loss of visual clarity and increased light sensitivity.
Research to find genes responsible for different forms of retinal dystrophy is in progress. Therefore while genetic testing is effective in diagnosing more common forms of the condition, not all subsets can be identified using a genetic test. There is currently no cure for retinal dystrophy. However, rehabilitative treatment such as corrective lenses and mobility training can help with management of the condition. If you or a family member has been diagnosed with retinal dystrophy, talk to your doctor about the most current treatment options. Genetic counselors and support groups are also available for more resources and information and can help connect you with others living with retinal dystrophy.