Learn About Cone-Rod Dystrophy

What is the definition of Cone-Rod Dystrophy?

Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.

What are the causes of Cone-Rod Dystrophy?

Mutations in more than 30 genes are known to cause cone-rod dystrophy. Approximately 20 of these genes are associated with the form of cone-rod dystrophy that is inherited in an autosomal recessive pattern. Mutations in the ABCA4 gene are the most common cause of autosomal recessive cone-rod dystrophy, accounting for 30 to 60 percent of cases. At least 10 genes have been associated with cone-rod dystrophy that is inherited in an autosomal dominant pattern. Mutations in the GUCY2D and CRX genes account for about half of these cases. Changes in at least two genes cause the X-linked form of the disorder, which is rare.

How prevalent is Cone-Rod Dystrophy?

Cone-rod dystrophy is estimated to affect 1 in 30,000 to 40,000 individuals.

Is Cone-Rod Dystrophy an inherited disorder?

Cone-rod dystrophy is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Cone-Rod Dystrophy Local Doctors?

Welch And Allan, MD PA

526 Shoup Ave W, Suite H, 
Twin Falls, ID 
 1.3 mi
Accepting New Patients

Jeffrey Stevens is an Ophthalmologist in Twin Falls, Idaho. Dr. Stevens and is rated as an Experienced provider by MediFind in the treatment of Cone-Rod Dystrophy. His top areas of expertise are Ocular Hypertension (OHT), Late-Onset Retinal Degeneration, Age-Related Macular Degeneration (ARMD), and Cataract. Dr. Stevens is currently accepting new patients.

Ophthalmology
Ophthalmology

Retina Specialists Of Idaho Partners PLLC

13923 W Wainwright Dr, Suite 301, 
Boise, ID 
 121.2 mi
Accepting New Patients

Denton Roberts is an Ophthalmologist in Boise, Idaho. Dr. Roberts and is rated as an Experienced provider by MediFind in the treatment of Cone-Rod Dystrophy. His top areas of expertise are Retinal Detachment, Age-Related Macular Degeneration (ARMD), Late-Onset Retinal Degeneration, and Diabetic Retinopathy. Dr. Roberts is currently accepting new patients.

 
 
 
 
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What are the latest Cone-Rod Dystrophy Clinical Trials?
ACDN-01-001: Open-Label, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Preliminary Efficacy of Subretinal ACDN-01 in Participants With ABCA4-related Retinopathy

Summary: This study is an open-label, single ascending dose clinical trial in participants who have ABCA4-related retinopathies. This is the first-in-human clinical trial in which ACDN-01 will be evaluated for safety, tolerability, and preliminary efficacy following a single subretinal injection of ACDN-01.

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Prescreening Study to Identify Potential Participants With ABCA4-related Retinopathy for ACDN-01 Clinical Trials

Summary: This is an observational prescreening study. Individuals who are eligible for prescreening will undergo testing procedures that may be used to determine eligibility in ACDN-01 clinical trials.

Who are the sources who wrote this article ?

Published Date: March 01, 2018
Published By: National Institutes of Health