In The Scientific Community

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


Noel NCL, MacDonald IM, Allison WT. Zebrafish Models of Photoreceptor Dysfunction and Degeneration. Biomolecules. 2021 Jan 9;11(1):78. doi: 10.3390/biom11010078. PMID: 33435268; PMCID: PMC7828047.


Khan M et al. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. Genetics in Medicine In press 2020

Ma J; Tong CM, MacDonald IM. Recovery of stereopsis after strabismus surgery in X-linked ocular albinism. Can J Ophthalmol 2020; 55: e70-72

Boycott KM, Campeau PM, Howley HE et al. The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms. Am J Hum Genet 2020; 106: 143-152.

Xu M, Zhai Y, MacDonald IM. Visual Field Progression in Retinitis Pigmentosa. Invest Ophthalmol Vis Sci 2020; 61: 56.

Adamptey B, Rudnisky CJ, MacDonald IM. Effect of stopping hydroxychloroquine therapy on the multifocal electroretinogram in patients with rheumatic disorders Can J Ophthalmol 2020; 55: 38-44.

Jones KD, Radziwon A, Birch DG, MacDonald IM. A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia. Ophthalmic Genet (2020) In Press.

MacDonald IM, Moen C, Duncan JL, Tsang SH, Cehajic-Kapetanovic J, Aleman TS. Perspectives on gene therapy: Choroideremia represents a challenging model for the treatment of other inherited retinal degenerations. Trans Vis Sci Technol 2020;9:17.

Benson MD, MacDonald IM, Sheehan M, Jain S. Improved electroretinographic responses following dietary intervention in a patient with Refsum disease. JIMD Reports 2020: In Press

MacDonald IM, Lee T, Lawrence J. Bestrophinopathies. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; September 30, 2003. [updated 2020 Jul 16]

Noel NCL, MacDonald IM. RP1L1 and inherited photoreceptor disease: A review. Surv Ophthalmol. 2020;65(6):725-739. doi:10.1016/j.survophthal.2020.04.005

Casey GA, Papp KM, MacDonald IM. Ocular Gene Therapy with Adeno-associated Virus Vectors: Current Outlook for Patients and Researchers. J Ophthalmic Vis Res. 2020;15(3):396-399. Published 2020 Aug 6. doi:10.18502/jovr.v15i3.7457

Yang XR, Benson MD, MacDonald IM, Innes AM. A diagnostic approach to syndromic retinal dystrophies with intellectual disability [published online ahead of print, 2020 Sep 11]. Am J Med Genet C Semin Med Genet. 2020;10.1002/ajmg.c.31834.

Benson MD, Plemel DJA, Yacyshyn E, Sandhu I, MacDonald IM, Baker CF. Combination Treatment with Rituximab and Bortezomib in a Patient with Non-Paraneoplastic Autoimmune Retinopathy. Ocul Immunol Inflamm. 2020;28(6):958-965.

Zhai Y, Xu M, Dimopoulos IS, et al. Quantification of RPE Changes in Choroideremia Using a Photoshop-Based Method. Transl Vis Sci Technol. 2020;9(7):21. Published 2020 Jun 18. doi:10.1167/tvst.9.7.21

Noel NCL, Nadolski NJ, Hocking JC, MacDonald IM, Allison WT. Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features in rp1l1Mutant Zebrafish. Cells. 2020 Sep 30;9(10):2214. doi: 10.3390/cells9102214. PMID: 33007938; PMCID: PMC7600334


Benson M, Wozniak J, MacDonald I. An analysis of strabismus re-operations in Northern Alberta, Canada from 1995 to 2015. Can J Ophthalmol. 2019 Feb;54:94-97. Doi: 10.1016/j.jcjo.2018.04.007; ISSN 171153360. Response to Letter. Benson M and MacDonald I Can J Ophthalmol. 2019 Apr;54(2):288. doi: 10.1016/j.jcjo.2019.03.011.

Hariri AH, Ip MS, Girach A, Lam BL, Fischer MD, Sankila EM, Pennesi ME, Holz FG, Maclaren RE, Birch DG, Hoyng CB, MacDonald IM, Black GC, Tsang SH, Bressler NM, Stepien KE, Larsen M, Gorin MB, Meunier I, Webster AR, Sadda S. Macular spatial distribution of preserved autofluorescence in patients with choroideremia. Br J Ophthalmol. 2018 Oct 8. pii: bjophthalmol-2018-312620. doi: 10.1136/bjophthalmol-2018-312620. [Epub ahead of print] PMID: 30297337.

Knowles JA, Dimopoulos IS, MacDonald IM. Retinal phenotype in a case of LCHAD/TFP deficiency with late-stage diagnosis. Retin Cases Brief Rep. 2019 13:279-282.  doi: 10.1097/ICB.0000000000000579.

MacDonald IM, Hoang S, Tuupanen S. X-Linked Congenital Stationary Night Blindness. 2008 Jan 16 [updated 2019 Jul 3]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. [no doi]

Benson MD, Plemel DJA, Yacyshyn E, Sandhu Irwindeep, MacDonald IM, Baker CF. Combination treatment with rituximab and bortezomib with para-neoplastic autoimmune retinopathy. Ocul Immun Inflammation 2019. Ocul Immunol Inflamm. 2019 Aug 16:1-8. doi:10.1080/09273948.2019.1636094

Zhai Y, MacDonald IM. OCT changes in 4-year old choroideremia patient. Ophthalmology 2019; 126:1357. doi: 10.1016/j.ophtha.2019.05.026

MacDonald, IM. X-linked ocular albinism: mapping and cloning the gene. (Editorial) Can J Ophthalmol 2019; 54:645-646. doi: 10.1016/j.jcjo.2019.05.014

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.


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.


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.