Irene H. Maumenee MD

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.