Robert K. Koenekoop, MD, PhD, Paediatric Ophthalmologist, Director of Pediatric Ophthalmology and Molecular Biologist of Blindness

Ophthalmology; Ocular Genetics Laboratory
Fun fact about me 

I run triathlons and train all year to swim, bike and run better.

I love working with children and their families because 
I love my job, because I take care of children's eyes and their vision, I do research to find new genes for blindness and I am very fortunate to be involved in new treatments for blindness.

Hospital information

Awards and distinctions 

Fullbright Scholarship; Telethon of Stars award

Academic appointments 

Associate Professor of Ophthalmology, McGill University and Director, McGill Ocular Genetics Laboratory

Community Involvement 

Eye van for Northern Ontario communities; Orbis service to Africa



Rijks University Utrecht, Clark University

Medical Degree 

McGill University


McGill University


Ocular Genetics and Paediatric Ophthalmology at Wilmer Eye Institute, Johns Hopkins University, Baltimore, US


Research interests 

Blindness due to photoreceptor cell death in children is a common and lifelong condition. However, research is revolutionizing the management of Leber congenital amaurosis (LCA) and retinitis pigmentosa. In these disease groups, vision is lost because of a genetic insult leading to photoreceptor cell death or cell dysfunction. My research program is contributing to the discovery of new genes and mechanisms as well as testing new treatments based on these findings.

Our laboratory, with collaborations from the University of Nijmegen in Holland and Baylor in the United States, has discovered the last four of 15 genes identified to date for LCA. It is also participating in the first human drug trial for LCA patients with LRAT or RPE65 mutations. Initial results point to the existence of dormant photoreceptors that can be revived by gene or drug replacement, confirming that genetic discoveries can lead to an understanding of disease pathways, then to treatments. 

Research foci 
  • Genome-wide research for new genes that cause childhood blindness;
  • Drug development for childhood blindness;
  • Retinitis pigmentosa;
  • Leber congenital amaurosis;
  • Gene therapy; 
  • Stem cell therapy.

Blindness, hereditary retinal diseases, retinitis pigmentosa, Leber congenital amaurosis, genotype-phenotype correlations, SNP microarrays, homozygosity mapping, linkage analysis

Selected publications 

Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M, Finding of Rare Disease Genes (FORGE) Canada Consortium, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R. Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nature Genetics 2012 July. [doi:10.1038/ng.2356]

Koenekoop RK, Bittner A, Dagnelie G, Mendola J, and Saperstein D. Safety and Efficacy of an Oral 9-cis-retinoid in Childhood Blindness due to Leber Congenital Amaurosis and RPE65 or LRAT mutations. New England Journal of Medicine, 2012. Under review by Lancet.

Rachel RA, May-Simera HL, Veleri S, Gotoh N, Choi BY, Murga-Zamalloa C, McIntyre JC, Marek J, Lopez I, Hackett AN, Brooks M, den Hollander AI, Beales PL, Li T, Jacobson SG, Sood R, Martens JR, Liu P, Friedman TB, Khanna H, Koenekoop RK, Kelley MW, and Swaroop A. Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. Journal of Clinical Investigation. 2012; 122(4): 1233-45. 

Majewski J, Wang Z, Lopez I, Al Humaid S, Ren H, Racine J, Bazinet A, Mitchel G, Braverman N, Koenekoop RK. A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing. Journal of Génétique médicale. 2011; 48(9): 593-6.