5/8/2019 1 Comment Genetics Clinic Case StudiesVisionAmerica's Dr. Rod Nowakowski, who serves as our Director of Genetic and Advanced Diagnostic Testing, wanted to share a few interesting pictures from our Genetics Eye Clinic. The first two photos are of a 29-year-old male with phenotypic presentation of Choroideremia. The molecular diagnosis is a pathogenic variant R253X mutation in the CHM gene. The photos below are of an 18-year-old male who also has a phenotypic presentation of Choroideremia. The molecular diagnosis is an E328X mutation in the CHM gene. The images above create an interesting discussion. Is it the age or variant that created the advanced disease in the 29-year-old? Both have Choroideremia but different variants in the CHM gene.
We expect to see gene therapy for Choroideremia in the near future.
1 Comment
11/6/2023 12:40:20 am
Prescription lenses in existing frames offer a cost-effective eyewear solution. By replacing the lenses in your current frames, you can maintain your preferred style while enjoying clear vision tailored to your prescription. This service is ideal for those who love their frames but require updated lenses. Many optical shops and online providers offer this option, allowing you to customize your eyeglasses according to your specific vision needs without investing in new frames, making it a practical and eco-friendly choice.
Reply
Leave a Reply. |
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
Categories |