In The Scientific Community

Stephanie P. Brooks, Shelly Benjaminy and Tania Bubela. Participant perspectives on a phase I/II ocular gene therapy trial (NCT02077361). Ophthalmic Genetics, 2019 Jul 4; 40:3, 276-281.

PACEOMICS Analysis and Guidance Documents

Luth W, Ali-Khan S, Bubela T. Canada’s orphan drug framework: lessons from the United States, Europe and Japan. 2015 Oct 14.

Peer-reviewed Publications


Dimopoulos IS, Hoang SC, Radziwon A, Binczyk NM, Seabra MC, MacLaren RE, Somani R, Tennant MTS and MacDonald IM. Two-year results after AAV2-mediated gene therapy for choroideremia: the Alberta experience. Am J Ophthalmol. 2018 Jun 27;193:130-142.


Dimopoulos IS1, Freund PR, Knowles JA and MacDonald IM. The natural history of full-field stimulus threshold decline in choroideremia. Retina. 2017 Aug 9. [Epub ahead of print]

Radziwon A, Arno G, K Wheaton D, McDonagh EM, Baple EL, Webb-Jones K, G Birch D, Webster AR and MacDonald IM. Single-base substitutions in the CHM promoter as a cause of choroideremia. Hum Mutat. 2017 Jun;38(6):704-715.

Dimopoulos IS, Radziwon A, St Laurent CD, MacDonald IM. Choroideremia. Curr Opin Ophthalmol. 2017 Sep;28(5):410-415.

Knowles J, Dimopoulos IS, MacDonald IMM. Retinal phenotype in a case of LCHAD/TFP deficiency with late-stage diagnosis. Retin Cases Brief Rep. 2017 Mar 15.


Chan SC, MacDonald IM. Resolving genetic test results for the patient and the clinician. Am J Ophthalmol. 2016 Oct;170:xiv-xvi.

Chan SC, Bubela T, Dimopoulos IS, Freund PR, Varkouhi AK, MacDonald IM. Choroideremia research: Report and perspectives on the second international scientific symposium for choroideremia. Ophthalmic Genet. 2016 Sep;37(3):267-75.

Dimopoulos IS, Tseng C, MacDonald IM. Microperimetry as an Outcome Measure in Choroideremia Trials: Reproducibility and Beyond. Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4151-61.

Chan S, Rayat J, Sauvé Y, MacDonald IM. Brothers with ocular motorapraxia, juvenile nephronophthisis and mild cerebellar defects. Can J Ophthalmol. 2016 Jun;51(3):e85-8.


Benjaminy S, Kowal SP, MacDonald IM, Bubela T. Communicating the promise for ocular gene therapies: challenges and recommendations. Am J Ophthalmol. 2015 Sep;160(3):408-415.e2.

Dimopoulos IS, Chan S, MacLaren RE, MacDonald IM. Pathogenic mechanisms and the prospect of gene therapy for choroideremia. Expert Opin Orphan Drugs. 2015 Jul 1;3(7):787-798.

MacDonald IM, Hume S, Chan S, et al. Choroideremia. 2003 Feb 21 [Updated 2015 Feb 26]. In: Pagon RA, Adam MP, Amemiya A, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from:


Héon E, Levin A, Macdonald IM. In Memoriam Maria Musarella. Ophthalmic Genet. 2014 Sep;35(3):129.

Gaillard F, Kuny S, Sauvé Y. Retinal distribution of Disabled-1 in a diurnal murine rodent, the Nile grass rat Arvicanthis niloticus. Exp Eye Res. 2014 Aug;125:236-43.

Dimopoulos IS, Freund PR, Redel T, Dornstauder B, Gilmour G, Sauvé Y. Changes in rod and cone-driven oscillatory potentials in the aging human retina. Invest Ophthalmol Vis Sci. 2014 Jul 17;55(8):5058-73.

Benjaminy S and Bubela T. Ocular gene transfer in the spotlight: implications of newspaper content for clinical communications. BMC Med Ethics. 2014 Jul 16;15(1):58.

Benjaminy S, MacDonald I, Bubela T. “Is a cure in my sight?” Multi-stakeholder perspectives on phase I choroideremia gene transfer clinical trials. Genet Med. 2014 May;16(5):379-85.

Furgoch MJ, Mewes-Arès J, Radziwon A, Macdonald IM. Molecular genetic diagnostic techniques in choroideremia. Mol Vis. 2014 Apr 25;20:535-44.

Kuny S, Filion MA, Suh M, Gaillard F, Sauvé Y. Long-term retinal cone survival and delayed alteration of the cone mosaic in a transgenic mouse model of stargardt-like dystrophy (STGD3). Invest Ophthalmol Vis Sci. 2014 Jan 21;55(1):424-39


Chan S, Freund PR, MacDonald I. Advances in the genetics of eye diseases. Curr Opin Pediatr. 2013 Dec;25(6):645-52.

Chi JY, MacDonald IM, Hume S. Copy number variant analysis in CHM to detect duplications underlying choroideremia. Ophthalmic Genet. 2013 Dec;34(4):229-33.

Freund PR, Macdonald IM. Microperimetry in a case of occult macular dystrophy. Can J Ophthalmol. 2013 Oct;48(5):e101-3.

Kalatzis V, Hamel CP, MacDonald IM; First International Choroideremia Research Symposium. Choroideremia: towards a therapy. Am J Ophthalmol. 2013 Sep;156(3):433-7.e3.

Dimopoulos IS, Tennant M, Johnson A, Fisher S, Freund PR, Sauvé Y. Subjects with unilateral neovascular AMD have bilateral delays in rod-mediated phototransduction activation kinetics and in dark adaptation recovery. Invest Ophthalmol Vis Sci. 2013 Aug;54(8):5186-5195.

Freund PR, MacDonald IM. Re: Monitoring patients on antimalarials: where are we now? Can J Ophthalmol. 2013 Jun;48(3):218.

Bourque SL, Kuny S, Reyes LM, Davidge ST, Sauvé Y. Prenatal Hypoxia is associated with long-term retinal dysfunction in rats. PloS One. 2013 Apr;8(4):e61861.

Olechowski CJ, Tenorio G, Sauvé Y, Kerr BJ. Changes in pain sensitivity and cognitive dysfunction are independent of disease severity in experimental autoimmune encephalomyletis (EAE). Exp Neurol. 2013 Mar;241:113-121.

Forthcoming Publications

1. Knowles J, Sajed T, Dimopoulos IS, Cobzas D, MacDonald IMM. Progression of fundus autofluorescence area loss in choroideremia males using a semi-automated quantification method. JAMA Ophthalmology


1. MacDonald IM, Dimopoulos IS, Chan S, Somani R, Tennant MT. Ocular Gene Therapy for Choroideremia: The Alberta Experience. (Hot topic award) ARVO Annual Meeting, May 2016, Seattle, Washington.

2. Dimopoulos IS, Tseng C & MacDonald IM. Test-Retest Repeatability of Microperimetry at the Central and Border Regions of Remaining Retina in Choroideremia. ARVO Annual Meeting, May 2016, Seattle, Washington.

3. Chan S, Dimopoulos IS, MacDonald IM and the Alberta Ocular Gene Therapy Team.  AAV-2 Mediated Gene Therapy Trial for Choroideremia (CHM) Patient Selection Process. Presented at the International Society of Genetic Eye Diseases and Retinoblastoma, August 8, 2015, Halifax, Nova Scotia.

4. Kowal S, Benjaminy S, MacDonald I and Bubela T. Gene therapy research reporting trends in the USA, UK and Canada and implications for clinical communication. Presented at the International Society of Genetic Eye Diseases and Retinoblastoma, August 8, 2015, Halifax, Nova Scotia.

5. Chan S, Rayat JS, Sauvé, Y and MacDonald I. Brothers with congenital ocular motor apraxia, juvenile nephronophthisis and mild cerebellar defects. Presented at the 2015 International Society of Genetic Eye Diseases and Retinoblastoma Conference, August 7, 2015, Halifax, Nova Scotia.

6. Dimopoulos IS, Chan S, MacDonald IM and the Alberta Ocular Gene Therapy Team. AAV-2 mediated gene therapy trial for choroideremia (CHM): Patient selection process. University of Alberta Department of Ophthalmology and Visual Sciences Research Day, June 2015, Edmonton, Alberta.

7. Dimopoulos IS, MacDonald IM and the Alberta Ocular Gene Therapy Team. Natural history studies inform the selection of outcome measures and subjects for gene therapy trials in choroideremia. Presented at the Second Gene Therapy Conference Casey Eye Institute, May 2015, Denver, Colorado.

8. Dimopoulos IS, MacDonald IM. Mesopic and scotopic threshold sensitivity in patients with choroideremia: relationship with residual fundus autofluorescence area. Presented at the ARVO Annual Meeting, May 2015, Denver, Colorado.

9. Presented at the 2nd International Scientific Symposium for Choroideremia sponsored by the Choroideremia Research Foundation, June 15-19, 2014, Westminster, Colorado.

    1. MacDonald I: Choroideremia 101.
    2. Freund P: Natural history studies inform the design of clinical trials in choroideremia.
    3. Bubela T: Addressing legal, regulatory and systems barriers to innovative therapies for retinopathies.

10. Bubela T. Hope, Hype and Stem Cell Tourism. Presented at Let’s Talk Science/Stem Cell Talks (University of British Columbia), May 16, 2014, Vancouver, British Columbia. Invited keynote speaker and panel moderator for 200 Vancouver-area high school students.

11. Bubela T. Hope and Hype in Stem Cell Research. Presented at Let’s Talk Science/Stem Cell Talks (MARS Innovation), March 7, 2014, Toronto, Ontario. Invited keynote speaker and panel moderator for 400 Ontario high school students.