Dr. Maumenee began her long and successful career as a clinician-scientist with medical studies in Germany. She continued postdoctoral training in medicine, medical genetics and ophthalmology at the University of Geneva, the University of Hawaii and the Wilmer Eye Institute at Johns Hopkins University. While on the Wilmer faculty, she founded and directed the Johns Hopkins Center for Hereditary Eye Diseases. She is the co-founder of the International Society for Genetic Eye Diseases. Dr. Maumenee has also served as an active consultant to the John F. Kennedy Institute for Visually and Mentally Handicapped Children. Her clinical and research interests are the classification and management of hereditary ocular diseases, population genetics and molecular genetics. Dr. Maumenee has published more than 300 journal articles and is the section editor for birth defects and genetic diseases for the British Journal of Ophthalmology. She is the recipient of awards from the American Academy of Ophthalmology, the National Marfan Foundation, Women in Ophthalmology and the International Society for Genetic Eye Diseases & Retinoblastoma. She joined the Illinois Eye and Ear Infirmary faculty in 2008. Dr. Maumenee is board certified in ophthalmology and medical genetics.
MD—University of Göttingen Medical School, Germany
Research Fellow in Ophthalmology and Genetics—University of Geneva Medical School
Post Doctoral Fellowship—Population Genetics Laboratory, University of Hawaii
Post Doctoral Fellowship in Medical Genetics—Johns Hopkins University School of Medicine, Baltimore
Ophthalmology Preceptorship—Wilmer Eye Institute, Johns Hopkins Hospital
Selected Honors and Awards
Leadership Award, International Society for Genetic Eye Diseases & Retinoblastoma, 2006
Women in Ophthalmology’s Suzanne Véronneau-Troutman Award, 2005
German Marfan Association Deutscher Marfan-Preis, 1995
Marion Spencer Fay Award, 1993
American Academy of Ophthalmology Senior Honor Award, 1993
Antoine Marfan Award, National Marfan Foundation, 1989
American Academy of Ophthalmology Honor Award, 1981
See a representative list of Dr. Maumenee's published journal articles on PubMed.
Estrada-Cuzcano A, Koenekoop RK, Coppieters F, Kohl S, Lopez I, Collin RW, De Baere EB, Roeleveld D, Marek J, Bernd A, Rohrschneider K, van den Born LI, Meire F, Maumenee IH, Jacobson SG, Hoyng CB, Zrenner E, Cremers FP, den Hollander AI.IQCB1 mutations in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2011 Feb 11;52(2):834-9. doi: 10.1167/iovs.10-5221. PubMed PMID:20881296.
Sundin OH, Dharmaraj S, Bhutto IA, Hasegawa T, McLeod DS, Merges CA, Silval ED, Maumenee IH, Lutty GA. Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization. Ophthalmic Genet.2008 Mar;29(1):1-9. doi: 10.1080/13816810701651241. PubMed PMID: 18363166; PubMed Central PMCID: PMC2739627.
den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Invest Ophthalmol Vis Sci. 2007 ec;48(12):5690-8. PubMed PMID: 18055821.
den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet. 2007 Jul;39(7):889-95. Epub 2007 Jun 3. PubMed PMID: 17546029.
Santacana-Laffitte G, Izquierdo NJ, Lladó JR, Maumenee IH. Juvenile cataracts in a patient with histidinuria: case report. Ophthalmic Genet. 2006 Dec;27(4):161-3. PubMed PMID: 17148044.
Pontes de Carvalho RA, Krausse ML, Murphree AL, Schmitt EE, Campochiaro PA, Maumenee IH. Delivery from episcleral exoplants. Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4532-9. PubMed PMID: 17003449.
Abouzeid H, Li Y, Maumenee IH, Dharmaraj S, Sundin O. A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. Ophthalmic Genet. 2006 Mar;27(1):15-20. PubMed PMID: 16543197.
Fleckenstein M, Maumenee IH. Unilateral isolated microphthalmia inherited as an autosomal recessive trait. Ophthalmic Genet. 2005 Dec;26(4):163-8. PubMed PMID: 16352476.
Finzi S, Li Y, Mitchell TN, Farr A, Maumenee IH, Sallum JM, Sundin O. Posterior polar cataract: genetic analysis of a large family. Ophthalmic Genet.2005 Sep;26(3):125-30. PubMed PMID: 16272057.