Elise Heon, MD, FRCS(C)
The Hospital for Sick Children
Associate Surgeon-in-Chief (Research)
Department of Surgery
Ophthalmology and Vision Sciences
Senior Associate Scientist
Genetics & Genome Biology
University of Toronto
Department of Ophthalmology and Vision Science
Mira Godard Chair in Vision Research
Alternate Phone: 416-813-7403
Alternate Fax: 416-813-6261
Dr. Héon is an Ophthalmologist and the Mira Godard Chair in Vision Research. She is a clinician-scientist in the field of Ocular Genetics, Director of the Eye Genetics Program and Senior Associate Scientist at the Hospital for Sick Children Research Institute in the program of Genetics &Genomic Biology. Dr. Héon carries both clinical and basic research projects. Her laboratory, supported by peer-reviewed grants, is involved in the genetic analysis of inherited eye disorders such retinal dystrophies most specifically. She has developed an international reputation in the field of ocular genetics. In addition to her numerous administrative activities, Dr. Héon has a busy teaching schedule dedicated to undergraduate, graduate and post graduate students as well as clinical and research fellows.
Dr. Héon's clinical work focuses on the management of hereditary eye diseases, which include hereditary cancer (retinoblastoma) and other non-cancerous blinding conditions such as retinitis pigmentosa. Dr. Héon's role as Director of the Ocular Genetics program is to ensure that patients are provided with state of the art global care. This program is unique in Canada and part of only a few in the world. The SickKids management of non-cancerous hereditary eye diseases is now being copied by other centres. The high quality of patient management of the ocular genetics patients has led to a waiting list of nearly one year because of the broad referral basis.
Inherited eye disorders: gene discovery, genotype-phenotype correlations, clinical trials
- Molecular characterization of corneal dystrophies
- Molecular characterization of Bardet Biedl Syndrome
- Molecular characterization of inherited cataract
- Development of a Registry of Inherited retinal diseases
- Clinical trial for Retinoblastoma
- Assessment of visual function parameters in retinal dystrophies
Dr.Héon's research involves the genetic mapping and candidate gene analysis of genes involved in inherited retinal dystrophies most specifically. She has 120 publications in peer-reviewed journals and 168 published abstracts.
Future Research Interests
Clinical trials for inherited retinal diseases
- Canadian Institutes of Health Research
- April 2009 - March 2013: Investigating the genetic complexity of Bardet-Biedl syndrome (BBS) using the C. elegans animal model
- Foundation Fighting Blindness - Canada
- July 2004 to June 2009: Development of a platform for a national registry for retinal dystrophies
- Canadian Genetic Disease Network
- Mira Godard Research endowment fund
- Board of Trustees, Foundation Fighting Blindness-Canada, 2009-present.
- Chair, Vision Quest Conferences, Foundation Fighting Blindness-Canada, 2008-present.
- Editorial Board, American Association for Pediatric Ophthalmology and Strabismus, 2006-present
- President of the International Society of Genetic Eye diseases 2005-present
- Member, Canadian Genetic Diseases Network (CGDN) Board of Directors, 2004- present
- Teacher of the year, The Hospital for Sick Children, Ophthalmology, 2004
- Mira Godard Chair in Vision Research 2003-present
- The Hynek Rothbart Award. 2000
- The Clive Mortimer Executive Award 2000
- The Hospital for Sick Children Foundation "Humanitarian Award", 1993
BillingsleyG, Deveault C, Héon E. (2011) BBS mutational analysis: A strategic approach. Ophthalmic Genetics 32(3): 181-7.
Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millan JM, Munier FL, Kennedy D, Jacobson G, Innes AM, Mitchell GA, Boycott K, Héon E (2011). BBS genotype-phenotype assessment of a multi-ethnic patient cohort calls for a revision of the disease definition. Human Mutation 32(6): 610-619.
Sapp JC, Nishimura D, Johnston JJ, Stone EM, Héon E, Sheffield VC, Biesecker LG (2010) Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity. Genetics in Medicine 12(10): 623-7.
Billingsley G, Bin J, Fieggen KJ, Dunmcan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millan JM, Mitchell GA, Deveault C, Héon E (2010) Mutations in Chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Journal of Medical Genetics 47(7): 453-63.
Mok C, Héon E, Zhen M. (2010) Ciliopathy and obesity. Clinical Genetics 77(1) 18-27.
Héon E (2009) My child has Leber congenital amaurosis (LCA): Why is he/she not eligible for gene therapy trials? (2009) Journal of the American Association for Pediatric Ophthalmology and Strabismus 13(6): 533-4.
Mallipatna A, Sutherland J, Gallie BL, Chan HS, Héon E.(2009) Management and outcomes of unilateral retinoblastoma: Comparing primary enucleation with eye conservation. Journal of the American Association for Pediatric Ophthalmology and Strabismus (13)6: 546-50.
Bin J, Jagadeesan M, Ferrini W, Mok C, Billingsley G, Héon E (2009) BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. Human Mutation 30(7): E737-46
Gerth C, Zawadzki R, Werner JS, Héon E.(2009) Retinal microstructure in patients with EFEMP1 retinal dystrophy evaluated by Fourier-domain OCT. Eye (Lond) 223(2): 480-483.
Gerth C, Zawadzki RJ, Héon E, Werner JS (2009) High-resolution retinal imaging of young children using a hand-held scanner and Fourier-domain optical coherence tomography. JAAPOS 13(1): 72-4.
Gerth C, Zawadzki RJ, Werner JS, Héon E(2009) Detailed analysis of retinal function and morphology in a patient with autosomal-recessive bestrophinopathy (ARB). Documenta Ophthalmologica 118: 239-246.
Cideciyan AV, Aleman TS, Boye S, Schwartz S, Kaushal S, Roman A, Pang J-J, Sumaroka A, Windsor Ek, Wilson J, Flotte T, Fishman G, Héon E, Stone EM, Byme B, Jacobson S, Hauswirth W (2008). Human gene therapy for RPE-65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. PNAS 105(39): 15112-7.
Gerth C, Zawadzki R, Werner JS, Héon E (2008) Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. Vision Research 48(3): 392-399.
Jacobson SG, Cideciyan AV, Aleman T, Sumaroka A, Windsor EAM, Schwartz SB, Héon E, Stone EM. (2008) Photoreceptor layer topography in children with Leber congenital amaurosis caused by RPE65 mutations. Investigative Ophthalmology and Vision Science 49(10): 4573-7.
Gerth C, Zawadzki RJ, Werner JS, Héon E.(2008) Retinal morphological changes of patients with x-linked retinoschisis evaluated by Fourier-Domain optical coherence tomography. Archives of Ophthalmology 126(6): 807-11.
Willoughby CE, Shafiq A, Ferrini W, Chan LL, Billingsley G, Priston M, Mok C, Chandna A, Kaye S, Heon E.CRYBB1 mutation associated with congenital cataract and microcornea. Mol Vis. 2005 Aug 8;11:587-93.
Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Traboulsi EI, Heon E, Pittler SJ, Milam AH, Maguire AM, Palczewski K, Stone EM, Bennett J. Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. Proc Natl Acad Sci U S A. 2005 Apr 26;102(17):6177-82. Epub 2005 Apr 18.
Heon E, Westall C, Carmi R, Elbedour K, Panton C, Mackeen L, Stone EM, Sheffield VC. Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. Am J Med Genet A. 2005 Jan 30;132(3):283-7.
Monemi S, Spaeth G, DaSilva A, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Heon E, Crick RP, Child A, Sarfarazi M. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet. 2005 Mar 15;14(6):725-33. Epub 2005 Jan 27
Willoughby CE, Chan LL, Herd S, Billingsley G, Noordeh N, Levin AV, Buys Y, Trope G, Sarfarazi M, Heon E. Defining the pathogenicity of optineurin in juvenile open-angle glaucoma. Invest Ophthalmol Vis Sci. 2004 Sep;45(9):3122-30.
Lodha N, Westall CA, Brent M, Abdolell M, Heon E. A modified protocol for the assessment of visual function in patients with retinitis pigmentosa. Adv Exp Med Biol. 2003;533:49-57.
Vincent AL, Rootman D, Munier FL, Heon E. A molecular perspective on corneal dystrophies. Dev Ophthalmol. 2003;37:50-66. Review
Mulvihill A, Budning A, Jay V, Vandenhoven C, Heon E, Gallie BL, Chan HS. Ocular motility changes after subtenon carboplatin chemotherapy for retinoblastoma. Arch Ophthalmol. 2003 Aug;121(8):1120-4.
Heon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM. VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
Hum Mol Genet. 2002 May 1;11(9):1029-36.
Heon E. Predictive DNA testing in ophthalmology: view 1. Br J Ophthalmol. 2003 May;87(5):633-5.