The American Academy of Ophthalmology is pleased to honor Irene Maumenee, MD, with the 2017 Laureate Recognition Award. This designation recognizes individuals who have made exceptional contributions to the betterment of eye care, leading to the prevention of blindness and restoration of sight worldwide.
Dr. Maumenee is a world-renowned genetic ophthalmologist and seminal figure in the rapidly advancing field of ophthalmic genetics. She has devoted her life work to understanding and teaching of genetic eye diseases. Her work has contributed to a shift in the research methodology used to elucidate the etiologies of rare hereditary ophthalmic disorders. These approaches now also extend to common ophthalmic diseases, such as open-angle glaucoma and age-related macular degeneration. We honor her for the lasting contributions that introduced formal genetic concepts to the field of eye care
After completing her medical education in Göttingen, Germany, Dr. Maumenee began studying genetic eye diseases under the mentorship of Professor Adolphe Franceschetti, the preeminent ophthalmologist in Geneva, Switzerland. She moved to Johns Hopkins University and studied medical genetics under Victor A. McKusick, MD. These early investigations taught her the importance of integrating core mathematical principles into medical genetics. She then joined the department of ophthalmology, under A. Edward Maumenee, MD, where she founded the Johns Hopkins Center for Hereditary Eye Disease and advanced to become the Ort professor of ophthalmology. She is board certified in both ophthalmology and medical genetics. Today she serves as professor of ophthalmology and director of the Ocular Genetics Laboratory at the University of Illinois College of Medicine, Chicago.
Dr. Maumenee has had major impact in many areas of ophthalmic disease:
- Systematic study of rare hereditary ocular and systemic conditions;
- Gene identification for congenital cataracts and early onset retinal diseases;
- Diagnosis and management of ocular complications of Marfan syndrome and other connective tissue diseases;
- Refining the genetic-linkage relationship between X-linked retinitis pigmentosa with tapetal reflex and the Xg red blood cell marker; and
- Helping identify the gene responsible for achromatopsia type 3, known as rod monochromacy, among the Pingelapese people of Micronesia.
By merging clinical genetics with laboratory investigations, her efforts have been formative for ophthalmic genetic translational studies.
She has also helped create ophthalmic genetics as a subspecialty in the United States. More than 20,000 patients with rare eye diseases have traveled from all parts of the world for her to evaluate and treat. She has trained many ophthalmic genetics fellows, who now constitute a significant legacy of clinicians and investigators working with hereditary ocular diseases. For more than 30 years, the two venues she started, the Ophthalmic Genetics Study Club and the International Society for Genetic Eye Diseases and Retinoblastoma, have remained central gathering points for exploration of clinical molecular genetic approaches to eye diseases.
The American Academy of Ophthalmology is honored to add Irene Maumenee, MD, to the distinguished list of recipients of the Laureate Recognition Award.