Matthew Benson, MD, MSc, FRCSC

Area of Study / Keywords

Ophthalmic Genetics Inherited Retinal Diseases Retinal Pigment Epithelium Stem Cells Peroxisome Biogenesis Disorders

About

Dr. Benson is a clinician-scientist in the Department of Ophthalmology and Visual Sciences, and he currently hold a Bayer Professorship in Translational Research in Ophthalmology appointment. He completed his ophthalmology residency and graduate studies at the University of Alberta. He then pursued subspecialty fellowship training in ophthalmic genetics at the National Eye Institute, National Institutes of Health. His clinical interests include ophthalmic genetics and adult strabismus.

Contact details for clinical matters:

Room 2318 10240 Kingsway Ave

Royal Alexandra Hospital

Edmonton AB T5H 3V9

Phone: 780-735-5932

Fax: 780-735-4969

Research

Our lab investigates disease mechanisms of inherited retinal disorders and macular degeneration using cell culture-based techniques. Specifically, we are interested in understanding the role of peroxisomes in the retinal pigment epithelium (RPE) and how dysfunction of peroxisomes may cause retinal degeneration and blindness. Peroxisomes are subcellular organelles that have critical roles in lipid metabolism and cellular detoxification. Reduction in the number and function of peroxisomes is linked to neurodegenerative diseases and aging. 

We generate stem cell-derived human RPE to study the consequence of peroxisome dysfunction in a disease-relevant cell type. Ultimately, our lab aims to identify precision medicine approaches to restore vision in patients with inherited retinal diseases and macular degeneration.

Selected Publications

1.  Chen TS, Sheri N, Ehmann DS, Benson MD. 2024. Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy. Ophthalmic Genetics Feb 29:1-4.

2.  Benson MD, Mukherjee S, Agather A, Blain D, Cunningham D, Mays R, Sun X, Li T, Hufnagel RB, Brooks BP, Huryn LA, Zein WM, Cukras CA. 2023. RPGR: Deep phenotyping and genetic characterization with findings specific to the 3’-end of ORF15. Investigative Ophthalmology and Visual Science 64(12):19.

3. Fox SC, Widen SA, Asai-Coakwell M, Havrylov S, Benson MD, Prichard LB, Baddam P, Graf D, Lehmann OJ, Waskiewicz AJ. 2022. BMP3 is a novel locus involved in the causality of ocular coloboma. Human Genetics 141(8):1385-1407. 

4. Benson MD, Papp KM, Casey GA, Radziwon A, St. Laurent CD, Doucette LP, MacDonald IM. 2021. PEX6 Mutations in Peroxisomal Biogenesis Disorders: An Usher Syndrome Mimic. Ophthalmology Science 1(2):100028.

5. Yang XR, Benson MD, MacDonald IM, Innes AM. 2020. Syndromic retinal dystrophies with intellectual disability: a diagnostic approach. American Journal of Medical Genetics Part C 184:538-570.

Laboratory Members

Graduate Students

Ehsan Misaghi

Toqa Abdelwahab 

Research Assistants

Constantin Mouzaaber

Medical Students

Hamed Hojjat

Brandon Huynh

Teaching

Courses

OPHTH 600A&B - Seminar in Ophthalmology

OPHTH 601 - Ocular Genetics