Irene H. Maumenee

Irene Hussels Maumenee, MD was educated in Europe and the USA and came to Johns Hopkins in 1969. In 1972 she established the Johns Hopkins Center for Hereditary Eye Disease, a facility where patients with individually rare genetic eye diseases could obtain clinical evaluation, prognostic assessment and management. Diseases of particular interest included oculocutaneous albinism, retinitis pigmentosa, and other hereditary retinal dystrophies, retinoblastoma, colobomatous malformations, anterior segment malformations, storage diseases, familial retinal detachments (including Norrie disease), congenital cataracts, dislocated lenses and congenital glaucoma.

Dr. Maumenee's post-doctoral thesis on the eye in the Marfan syndrome established her as an international expert in ocular complications of connective tissue diseases. She spent more than 30 years studying achromatopsia, a rare eye disease prevalent on Pingelap, a tiny coral atoll in the East Caroline Islands, culminating in her discovery of the actual gene mutation. She also gained international recognition for her work in discovering different gene mutations causing Leber congenital amaurosis.

In 1991 Dr. Maumene was appointed the inaugural Ort Family Professor of Ophthalmology; she also had appointments in the Departments of Medicine (Division of Medical Genetics) and in the Department Of Pediatrics. She obtained board certification in Ophthalmology and in Medical Genetics. She has won numerous awards and has given numerous named and invited lectures. Dr. Maumenee co-founded and was first President of the International Society for Genetic Eye Diseases, and she similarly founded and was first President of the Ocular Genetics Study Club. She is the author of many scientific articles and has edited several books on the genetics of eye diseases. Her clinical and research interests included the nosology and management of hereditary ocular diseases, population genetics, computer application to genetic analysis and molecular genetics.

Her awards include:

• WHO Visiting Investigator Award, Population Genetics Laboratory, University of Hawaii, 1970
• Research Career Development Award, 1972
• American Academy of Ophthalmology Honor Award, 1981
• Marion Spencer Fay National Award of the Medical College of Pennsylvania to a Distinguished Woman Physician/Scientist, 1993
• American Academy of Ophthalmology Senior Honor Award, 1993
• German Marfan Association Deutscher Marfan-Preis, 1995

Education:

• Munchen, Germany, 1960
• Freiburg i.Br, Germany, 1961
• Geneva, Switzerland, Geneva Medical School, 1962-1963
• Göttingen, Germany, 1964
• Institut de Genetique Medicale in Clinique Ophtalmologique of the University of Geneva Medical School, 1967
• Doctoral Thesis in Medicine of the University of Geneva, summa cum laude, 1968
• The Johns Hopkins University School of Medicine:
- Fellowship; division of Genetics, Department of Medicine, 1968-1969
- Ophthalmology preceptorship, The Wilmer Eye Institute, The Johns Hopkins Hospital, 1969-1973

Appointments

• Fellow in Medicine, Department in Medicine, The Johns Hopkins University School of Medicine, 1969-1971
• Active consultant to the John F. Kennedy Institute for the Visually and Mentally Handicapped Children, 1974-present
• Director, Low Vision Clinic, Wimer Eye Institute, 1977-1988
• Director, The Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Eye Institute, 1972-
• Professor of Ophthalmology, joint appointment in Medicine, The Wilmer Ophthalmological Institute, The Johns Hopkins Hospital, Department of Medicine, Division of Medical Genetics, The Johns Hopkins Hospital, Baltimore MD, 1987-1991
• Ort Professor of Ophthalmology, Professor of Pediatrics, joint appointment in Medicine, The Wilmer Ophthalmological Institute, The Johns Hopkins Hospital, the Department of Pediatrics, The Johns Hopkins Hospital, the Department of Medicine, Division of Medical Genetics, The Johns Hopkins Hospital, Baltimore, MD, 1991-