Ophthalmology Webinar: Eye Concerns In Genetic Aortic Disorders
Wednesday July 28, 2021 at 8:00pm EST
GADA Canada hosted a focused event all about eyes for anyone with a genetic aortic disorder (GAD) and who wants to know how to manage and care for their eyes.
World renowned Ophthalmologist, Dr. Irene Maumenee, presented about the architecture of the human eye, and common concerns most often encountered by those with genetic aortic conditions such as: detached retina, ectopia lentis, glaucoma, cataract, iris floccule, ocular migraine and others.
Questions were addressed by Dr. Maumenee through her talk and during the Q&A session.
For over 30 years, it has been known that those with Marfan Syndrome (MFS) generally experience ocular issues. Ectopia lentis (dislocation of the eye lens) is one of the fundamental and visible diagnostic features for MFS.
It became evident that ectopia lentis may not present in all patients with Marfan, confirmed with the FBN1 genetic test, and many deal with other ocular problems such as myopia, detached lens, glaucoma, cataracts and more.
Similar ocular concerns have been reported in severe Loeys-Dietz syndrome (LDS). It is not known, if other genetic mutations, causative of aortic aneurysms and dissections, other than FBN1 in MFS, such as ACTA2, MYH11, MYLK, PRKG1, also carry concerning features of associated eye disorders.
ABOUT THE SPEAKER:
Dr. Irene H. Maumenee, MD
Professor of Ophthalmology,
Director of Applied Genetics at Columbia University
Dr. Irene H. Maumenee has a lifelong interest in genetic eye diseases.
She is a medical school graduate of the University of Goettingen, Germany. She joined the Department of Ophthalmology at the University of Geneva, Switzerland, where she wrote a thesis on X-linked retinitis pigmentosa. From there she moved to the University of Honolulu, Hawaii, where she studied population genetics. As part of her studies, she initiated the long term analysis of achromatopsia on Pingelap, a small island in the Federated States of Micronesia. The studies resulted in identification of the first gene for colorblindness, CNGB3.
She moved to the Department of Medical Genetics at Johns Hopkins University in 1969. The Department had been founded by Dr Victor A McKusick, who had a strong interest in disorders of connective tissue, including the Marfan Syndrome. Her interest in genetic eye diseases made her welcome at the Institution and she stayed the next 40 years. She wrote her AOS thesis on the Marfan Syndrome and continues to work on the group of diseases, which entail dissections of the aorta.
She recently joined the Faculty of the Department of Ophthalmology at Columbia University Medical Center. She will continue her studies in genetic projects at this institution.