What’s a cone dystrophy?

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Cone dystrophy is a genetic eye disease affecting color vision due to damage to the cones. Treatment focuses on compensating for visual acuity loss, and researchers are working to develop more effective treatments. Regular eye exams are important for those with a family history of the condition.

Cone dystrophy is an eye disease involving the cones, the specialized structures in the eye used for color vision. Numerous forms of cone dystrophy have been identified and the condition appears to be genetic in nature. Treatment options focus on helping patients compensate for the loss of visual acuity, because damaged cones cannot be replaced and the vision loss associated with cone dystrophy cannot be reversed. Researchers interested in genetic eye diseases are working to identify the genes involved with the aim of developing more effective treatments.

Some people with cone dystrophy are born with missing or damaged cones, and the condition remains static for life. Others experience progressive eye damage, with vision problems onset in their late teens or later in life, depending on the nature of the disease. In these patients, the eye may look physically normal on an examination in the early stages of the disease, but the patient will have vision problems.

Cone dystrophy can cause poor color vision, increased sensitivity to light, and vision loss. Patients will feel more comfortable in low light conditions and will be unable to perform activities that require the ability to distinguish colors, especially when subtle color variations are involved. The level of disability can be quite variable and some patients also have other vision problems. When patients first come to the doctor for treatment, it can sometimes be difficult to identify cone dystrophy unless a patient mentions a family history of the disease, illustrating the importance of providing medical histories to healthcare professionals.

An ophthalmologist can examine the patient, determine the level of damage involved, and assess the patient’s current visual acuity. Treatment of cone dystrophy may include wearing smoked or fogged lenses to be more comfortable in bright conditions, along with wearing corrective lenses to improve visual acuity. Learning coping skills to compensate for poor color vision and reduced visual acuity may also be recommended for patients with this condition. Low vision aids such as large printed books, hand-held magnifiers, and so on can be helpful for patients.

People who know a family history of cone dystrophy should receive regular eye exams to check eye health and visual acuity. Regular exams will help identify vision problems as early as possible, providing patients with access to care in a timely manner. It is important to be aware that this condition can possibly compromise the safety of a person behind the wheel, while operating heavy equipment and in similar environments.




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