Cone-Rod DystrophySymptoms, Doctors, Treatments, Advances & More
Learn About 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.
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.
Cone-rod dystrophy is estimated to affect 1 in 30,000 to 40,000 individuals.
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.
UPMC Vision Institute
Jose' Sahel is an Ophthalmologist practicing medicine in Pittsburgh, Pennsylvania. Dr. Sahel is rated as an Elite provider by MediFind in the treatment of Cone-Rod Dystrophy. He is also highly rated in 35 other conditions, according to our data. His clinical expertise encompasses Retinopathy Pigmentary Mental Retardation, Cone-Rod Dystrophy, X-Linked Congenital Stationary Night Blindness, Retinitis Pigmentosa, and Vitrectomy. Dr. Sahel is currently accepting new patients.
Scheie Eye Institute Perelman
Tomas Aleman is an Ophthalmologist practicing medicine in Philadelphia, Pennsylvania. Dr. Aleman is rated as an Elite provider by MediFind in the treatment of Cone-Rod Dystrophy. He is also highly rated in 27 other conditions, according to our data. His clinical expertise encompasses Choroideremia, Leber Congenital Amaurosis, Retinopathy Pigmentary Mental Retardation, and Cone-Rod Dystrophy. Dr. Aleman is board certified in Ophthalmology, 2019. Dr. Aleman is currently accepting new patients.
Christina Zeitz practices practicing medicine in Paris, France. Ms. Zeitz is rated as an Elite expert by MediFind in the treatment of Cone-Rod Dystrophy. She is also highly rated in 18 other conditions, according to our data. Her clinical expertise encompasses X-Linked Congenital Stationary Night Blindness, Cone-Rod Dystrophy, Retinopathy Pigmentary Mental Retardation, Late-Onset Retinal Degeneration, and Vitrectomy.
Summary: Study OpCT-001-101 is a Phase 1/2a first-in-human, multisite, 2-part interventional study to evaluate the safety, tolerability, and the effect on clinical outcomes of OpCT-001 in approximately 54 adults with primary photoreceptor (PR) disease. Phase 1 focuses on safety and features a dose-escalation design. Phase 2 is designed to gather additional safety data and assess the effect of OpCT-001 on m...
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.
Published Date: March 01, 2018
Published By: National Institutes of Health