Faculty

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Mark Pennesi, M.D., Ph.D.

Professor of Ophthalmology School of Medicine

Oregon Health & Science University

Affiliations

OHSU School of Medicine

Department Of Ophthalmology

Institute Of Casey Eye

Oregon Health & Science University

Mark Pennesi, M.D., Ph.D., is a Professor of Ophthalmology at Oregon Health & Science University School of Medicine. His research focuses on the genetic basis of inherited retinal diseases, gene therapy, and retinal imaging, including optical coherence tomography. He has published seminal work on machine learning classification of in-frame indels, gene therapy-associated uveitis, and the role of DDX41 variants in retinal dystrophy. A leader in the Foundation Fighting Blindness Clinical Consortium, Dr. Pennesi leads international collaborations on genetic therapies for retinal degenerations.

Honors

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Experiences

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Education

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Mark Pennesi, M.D., Ph.D.

Oregon Health & Science University

Professor of Ophthalmology School of Medicine

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ophthalmology retina ophthalmology retina ocular disease visual science genetics gene therapy neuroscience vision research neuro-ophthalmology optical coherence tomography medicine human genetics ocular surface experimental ophthalmology visual system photoreceptor cells medical optical imaging molecular neurodegeneration clinical research retinal degeneration medical imaging translational medicine genetic disorders visual impairments biomedical imaging retinitis pigmentosa ocular pathology experimental medicine medical genetics mammalian biology neuroprotection inherited retinal diseases natural history medicinal research photomedicine pediatric ophthalmology visual acuity x-linked retinoschisis knockout mice optic nerve optometry inherited retinal disease stargardt disease clinical biochemistry ocular tissues genetic basis optical imaging novel therapies nano-drug delivery disease gene identification biomedical optics vitreous body foveal cone structure x-linked retinitis pigmentosa hearing research vascular biology child neurology laboratory medicine metabolic syndrome heredity vascular image benchmark studies disease progression experimental biology metabolic disorders gene delivery animal models biallelic mutations photoreceptor structure photoreceptor degeneration cotoretigene toliparvovec two-color dark-adapted perimetry therapeutic nanomaterials neurodynamics cortical remodeling craniofacial research neuropathology anatomical pathology neurogenetics muscular dystrophies vision rehabilitation pediatrics neurodevelopmental disorders glaucoma pediatric urology medical history

Notable Scholarly Works

Notable Federal Grants

Collaborators

Assessment of in‐Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning. Human Mutation (2026)

Biallelic Germline Variants in the Hematologic Malignancy Predisposition Gene Ddx41 Cause Retinal Dystrophy Through Dysregulation of Retinal Homeostasis. medRxiv (2026)

Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium. Translational Vision Science & Technology (2025)

ocular diseasemedicinetranslational researchophthalmologyvisual sciencetranslational medicineretina

Biallelic Loss-Of-Function Variants in C19Orf44 Lead to Retinal Degeneration. Journal of Medical Genetics (2025)

geneticsocular diseaseneurogeneticsophthalmologyretinal degenerationmolecular neurodegenerationvisual scienceophthalmology retinaretinaneuro-ophthalmology

Characterization of Visual Field Loss Over 4 Years in the Rate of Progression in Ush2A-Related Retinal Degeneration (Rush2A) Study. American Journal of Ophthalmology (2025)

Jacque L DuncanMaureen G MaguireLee S McDanielNicole R DoucetIsabelle AudoAllison R AyalaJanet K CheethamPeiyao ChengTodd A DurhamRachel M HuckfeldtRobert B HufnagelK Thiran JayasunderaNaheed KhanBrett MalbinRamiro S MaldonadoMichel MichaelidesMark E PennesiChristina Y WengAlex ZmejkoskiShobana AravindHiroshi IshikawaDavid G Birch

ocular diseasevisual impairmentsophthalmologyvisual systemretinavisual field loss

Characterizing Long-Chain 3-Hydroxy-Acyl-Coa Dehydrogenase Deficiency (Lchadd) Chorioretinopathy Using Oct and Octa. Investigative Ophthalmology & Visual Science (2025)

pathologybiochemistrychorioretinopathy using octlipidsmetabolic pathwaysclinical researchclinical biochemistrymetabolism

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll. Investigative Ophthalmology & Visual Science (2025)

Kari BranhamLassana SamarakoonIsabelle AudoAllison R. AyalaJanet K. CheethamStephen P. DaigerPatty DhoogeJacque L. DuncanTodd A. DurhamAbigail T. FahimRachel M. HuckfeldtRobert B. HufnagelSusanne KohlRamiro S. MaldonadoMichele MeliaMichel MichaelidesMark E. PennesiJosé-Alain SahelJuliana M. Ferraz SallumMandeep S. SinghDror SharonKimberly StepienKaylie JonesChristina Y. Weng

geneticsgenetic basisocular diseasevisual impairmentsophthalmologygenetic disordersinherited retinal diseasevisual sciencemedical geneticsgenetic epidemiologygene poll

Corrigendum to “Baseline Visual Field Findings in the Rush2A Study: Associated Factors and Correlation With Other Measures of Disease Severity.” Am J Ophthalmol. 2020; 219: 87-100. American Journal of Ophthalmology (2025)

visual impairmentshealth sciencesmedicinevisual perceptionvision researchother measuresophthalmologyvisual systemvision rehabilitationclinical epidemiologyrush2a studyvisual sciencevisual functionophthalmology retinaneuro-ophthalmologyeye tracking

Development and Validation of a Commercially Available Two Color Dark Adapted Perimetry to Assess Inherited Retinal Degenerations. American Journal of Ophthalmology (2025)

geneticsocular diseaseophthalmologyvision rehabilitationvisual systemvisual scienceophthalmology retinaretinacommercially available two

Effects of Medications on the Human Electroretinogram: A Comprehensive Review. Survey of Ophthalmology (2025)

pharmacologyapplied pharmacologyelectrophysiological evaluationmedicineneurophysiologyside effectsclinical pharmacologydrug safetypharmacotherapyelectrolyte disturbanceclinical researchhuman electroretinogramneuropharmacologyindividualized medicineelectrophysiology

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Mark Pennesi, M.D., Ph.D.

Professor of Ophthalmology School of Medicine

Oregon Health & Science University

Affiliations

OHSU School of Medicine

Department Of Ophthalmology

Institute Of Casey Eye

Oregon Health & Science University

Honors

Create free account to unlock more features

Experiences

Create free account to unlock more features

Education

Create free account to unlock more features

Mark Pennesi, M.D., Ph.D.

Oregon Health & Science University

Professor of Ophthalmology School of Medicine

You can click a keyword to filter the displayed items

Notable Scholarly Works

Notable Federal Grants

Collaborators

Assessment of in‐Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning. Human Mutation (2026)

Biallelic Germline Variants in the Hematologic Malignancy Predisposition Gene Ddx41 Cause Retinal Dystrophy Through Dysregulation of Retinal Homeostasis. medRxiv (2026)

Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium. Translational Vision Science & Technology (2025)

ocular diseasemedicinetranslational researchophthalmologyvisual sciencetranslational medicineretina

Biallelic Loss-Of-Function Variants in C19Orf44 Lead to Retinal Degeneration. Journal of Medical Genetics (2025)

geneticsocular diseaseneurogeneticsophthalmologyretinal degenerationmolecular neurodegenerationvisual scienceophthalmology retinaretinaneuro-ophthalmology

Characterization of Visual Field Loss Over 4 Years in the Rate of Progression in Ush2A-Related Retinal Degeneration (Rush2A) Study. American Journal of Ophthalmology (2025)

ocular diseasevisual impairmentsophthalmologyvisual systemretinavisual field loss

Characterizing Long-Chain 3-Hydroxy-Acyl-Coa Dehydrogenase Deficiency (Lchadd) Chorioretinopathy Using Oct and Octa. Investigative Ophthalmology & Visual Science (2025)

pathologybiochemistrychorioretinopathy using octlipidsmetabolic pathwaysclinical researchclinical biochemistrymetabolism

geneticsgenetic basisocular diseasevisual impairmentsophthalmologygenetic disordersinherited retinal diseasevisual sciencemedical geneticsgenetic epidemiologygene poll

Development and Validation of a Commercially Available Two Color Dark Adapted Perimetry to Assess Inherited Retinal Degenerations. American Journal of Ophthalmology (2025)

geneticsocular diseaseophthalmologyvision rehabilitationvisual systemvisual scienceophthalmology retinaretinacommercially available two

Effects of Medications on the Human Electroretinogram: A Comprehensive Review. Survey of Ophthalmology (2025)

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5
38
10 / page