Thursday, February 28th will be the 12th Rare Disease Day coordinated by EURORDIS. Rare Disease Day is recognized on the last day of February each year and has helped raise awareness of rare diseases and their impact on the lives of patients. According to the National Eye Institute (NEI), a rare disease is considered to have a prevalence of fewer than 200,000 affected individuals in the United States. In honor of Rare Disease Day, we thought we would highlight Usher Syndrome. The photo featured is of a patient who was referred to Dr. Rod Nowakowski and our genetic eye clinic. The patient was found to have autosomal recessive Usher Syndrome Type 1 with pathogenic variants in the CDH23 gene. Commenting on this case, Dr. Nowakowski said, "This was the first time the patient had been accurately diagnosed as the family believed the hearing impairment was caused by a febrile illness as an infant. The patient was 29-years-old at the time of referral and did not think there was a vision problem.
"As of February 13, 2019, there were 15 clinical studies listed for Usher Syndrome on the U.S. National Library of Medicine Clinical Trial's website including several for gene therapy," he continued. "This is a devastating sensory disorder that in some cases can eventually lead to deafness and blindness. With a molecular diagnosis in hand, it is now possible to qualify for gene therapy that is specific to the CDH23 gene." The NEI provides a comprehensive list of rare diseases and VisionAmerica offers genetic testing for many of them including Leber Congenital Amaurosis which as you recall received the first FDA approved gene therapy (Click here to read our piece on the FDA approval of LUXTURNA.) Dr. Nowakowski serves as the director of our Genetic Eye Disease Clinic and will be speaking on Genetic Testing and Gene Therapy for Inherited Retinal Disease at our CE program next Tuesday, February 19th. Click here to sign up!
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AuthorThe staff and doctors at VisionAmerica are committed to providing relevant information for you, your patients and your practice. We hope you find the information in our blog post helpful. Archives
August 2019
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