Mark Edward Pennesi MD PhD

Retinal Disease

Ophthalmic Genetics

3375 SW Terwilliger BlvdCeiPortland, OR 97239
Phone+1 503-494-8386

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Education & Training

University of PennsylvaniaBS, Bioengineering, Summa Cum Laude, 1997
Oregon Health Science University HospitalFellowship, Ophthalmic Genetics and Inherited Retinal Degeneration, 2008 - 2009
University of California2005 - 2008
Scripps Mercy Hospital2005 - 2005
Baylor College of MedicineClass of 2004

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Certifications & Licensure

CA State Medical License 2006 - Present
OR State Medical License 2008 - 2027
TX State Medical License 2023 - 2026
American Board of Ophthalmology Ophthalmology

Awards, Honors, & Recognition

CMS Meaningful Use Stage 1 Certification EpicCare Ambulatory - Core EMR, Epic Systems Corporation, 2013-2014, 2017
CMS Meaningful Use Stage 2 Certification EpicCare Ambulatory 2014 Certified EHR Suite, Epic Systems Corporation, 2013-2014, 2017
CMS Meaningful Use Stage 1 Certification EpicCare Ambulatory EMR, Epic Systems Corporation, 2012-2013

Clinical Trials

Rate of Progression in USH2A-related Retinal Degeneration Start of enrollment: 2017 Aug 11
ACTIVE_NOT_RECRUITING

Publications & Presentations

PubMed

Bi-allelic variants in AP5Z1 and AP5B1 lead to retinal degeneration.
Hafiz Muhammad Jafar Hussain, Meng Wang, Paul Yang, Behnoosh Tasharrofi, Yumei Li
HGG Advances. 2026-04-09
Development and Validation of a Commercially Available Two Color Dark Adapted Perimetry to Assess Inherited Retinal Degenerations.
Mark E Pennesi, Alessia Amato, Wayne Tschetter, Ryan Schmidt, Austin D Igelman
American Journal of Ophthalmology. 2026-01-01
Assessment of In-Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning.
David E Rauch, Meng Wang, Muhammad Jafar Hussain Hafiz, Daniel C Brock, Yumei Li
Human Mutation. 2026-01-01

Journal Articles

Strategies for Treating Inherited Retinal Degeneration with Large Genes That Are Not Amenable to Adeno-Associated Virus–Based Gene Replacement Therapy
Mark E Pennesi, Richard G Weleber, JAMA Ophthalmology
Disease Course in Patients with Pentosan Polysulfate Sodium–Associated Maculopathy After Drug Cessation
Joseph M Simonett, Mark E Pennesi, Nieraj Jain, JAMA Ophthalmology
Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients with Autosomal Dominant Retinitis Pigmentosa
David G Birch, Michael P Teske, Richard G Weleber, Byron L Lam, Judith Warner, Gary Edd Fish, Neal L Sklaver, Mark E Pennesi, John Heckenlively, Paul S Bernstein, Karl..., JAMA

Books/Book Chapters

Online Encyclopedia of the Eye
Chapter: Primary Photoreceptor Degenerations: Terminology
Pennesi ME, Francis PJ, Weleber RGEditors: Bok D, Besharse, J.C.
Online Encyclopedia of the Eye.
Chapter: Primary Photoreceptor Degenerations: Retinitis Pigmentosa
Pennesi ME, Francis PJ, Weleber RGEditors: Bok D, Besharse, J.C.
Genetic Diseases of the Eye.
Chapter: Peroxisomal Disorders
Pennesi ME and Weleber RGEditors: Traboulsi E.

Abstracts/Posters

Lentiviral Vector for Gene Replacement Therapy in Stargardt Disease and Usher Syndrome Type IB.
Wilson D, Stout JT, Weleber RG, Pennesi ME, Francis PJ, Sahel J, Mohand-Said S, Naylor S Audo I, Macula Society, Jerusalem Israel
Imaging the Cone Mosaic using a Commerically available Adaptive Optics Flood Illuminated Camera and Examining its Potential as an Endpoint for Clinical Trials.
Pennesi ME, Fay JD, Faridi A, Garg AK, Chegarnov EN, Michaels KV, International Society for Clinical Electrophysiology in Vision, Valencia, Spain
Hand-Held Spectral-Domain Optical Coherence Tomography in the Evaluation of Patients in a Pediatric Ophthalmic Genetics Clinic.
Pennesi ME, Courtney RJ, Francis PJ, Weleber RG, International Society for Clinical Electrophysiology in Vision, Quebec City, Montreal

Lectures

SD-OCT of Mice and Men.
Coordes Conference, UCSF
Retinitis Pigmentosa.
Foundation Fighting Blindness, Visions Conference
The Advantages of Hand-held sdOCT for Studying Retinal Degeneration in Infants and Animal Models.
National Eye Institute

Authored Content

Disease Course in Patients with Pentosan Polysulfate Sodium–Associated Maculopathy After Drug CessationJuly 2020
Disease Course in Patients with Pentosan Polysulfate Sodium–Associated Maculopathy After Drug CessationJuly 2020
Disease Course in Patients with Pentosan Polysulfate Sodium–Associated Maculopathy After Drug CessationJuly 2020

Press Mentions

Opus Genetics Doses First Participant in OPGx-BEST1 Gene Therapy Trial for Best DiseaseNovember 13th, 2025
CRISPR Can Treat Common Form of Inherited Blindness, Early Data HintMay 15th, 2024
Gene Therapy Improves Vision in Leber Congenital Amaurosis PatientsMay 10th, 2024