Irene Maumenee MD » Faculty

Irene Maumenee MD » Faculty 2017-08-28T12:23:47+00:00


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Irene Maumenee MD

Research Professor of Ophthalmology, Pediatric Ophthalmology & Adult Strabismus Service, Director of Ocular Genetics Laboratory
Work Mailing Address: Illinois Eye and Ear Infirmary 1855 W. Taylor Street, M/C 648 Chicago IL 60612
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Biographical Info

Irene Maumenee, MDDr. 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.

Selected Publications

Huynh N, Blain D, Glaser T, Doss EL, Zein WM, Lang DM, Baker EH, Hill S, Brewer CC, Kopp JB, Bardakjian TM, Maumenee IH, Bateman BJ, Brooks BP. Systemic diagnostic testing in patients with apparently isolated uveal coloboma. Am J Ophthalmol. 2013 Dec;156(6):1159-1168.e4. doi: 10.1016/j.ajo.2013.06.037. Epub 2013 Sep 5. PubMed PMID: 24012100.

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.

Li F, Batista DA, Maumenee I, Wang T. An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld-Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism. Am J Med Genet A. 2010 May;152A(5):1318-21. doi: 10.1002/ajmg.a.33355. PubMed PMID: 20425844.

Traboulsi EI, Ellison J, Sears J, Maumenee IH, Avallone J, Mohney BG. Aniridia with preserved visual function: a report of four cases with no mutations in PAX6. Am J Ophthalmol. 2008 Apr;145(4):760-4. doi: 10.1016/j.ajo.2007.12.012. Epub 2008 Feb 19. PubMed PMID: 18243151.

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.

Hagstrom SA, Pauer GJ, Reid J, Simpson E, Crowe S, Maumenee IH, Traboulsi EI.  SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Am J Med Genet A. 2005 Oct 1;138A(2):95-8. PubMed PMID: 16145681.

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.

Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, Sieving PA. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3363-71. PubMed PMID: 16123441.

Zernant J, Külm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3052-9. PubMed PMID: 16123401.

Sundin OH, Leppert GS, Silva ED, Yang JM, Dharmaraj S, Maumenee IH, Santos LC, Parsa CF, Traboulsi EI, Broman KW, Dibernardo C, Sunness JS, Toy J, Weinberg EM.  Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. Proc Natl Acad Sci U S A. 2005 Jul 5;102(27):9553-8. Epub 2005 Jun 23. PubMed PMID: 15976030; PubMed Central PMCID: PMC1172243.

Categories: Ophthalmology, Ophthalmology Research Faculty
Updated 3 months ago.