MarkEdwardPennesiMDPhD

PubMed

• Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.
  Daniel C Brock, Meng Wang, Hafiz Muhammad Jafar Hussain, David E Rauch, Molly Marra, Mark E Pennesi, Paul Yang, Lesley Everett, Radwan S Ajlan, Jason Colbert, Fernanda...> ;Human Molecular Genetics. 2024 Mar 7
• Assessment of Visual Function With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa in the Randomized XIRIUS Phase 2/3 Study.
  Panda, S., Gow, J., Zhao, G., MacLaren, R., , Lam, B., Pennesi, M., Kay, C.> ;Ophthalmology. 2024 Feb 27
• A Prospective, Observational, Noninterventional Clinical Study of Participants With Choroideremia: The NIGHT Study.
  Robert E Maclaren, Byron L Lam, M Dominik Fischer, Frank G Holz, Mark E Pennesi, David G Birch, Eeva-Marja Sankila, Isabelle Anne Meunier, Kimberly E Stepien, Juliana ...> ;American Journal of Ophthalmology. 2024 Feb 3
• 1 citations
  A proposal for an updated staging system for LCHADD retinopathy.
  Nida Wongchaisuwat, Melanie B Gillingham, Paul Yang, Lesley Everett, Ashley Gregor, Cary O Harding, Jose Alain Sahel, Ken K Nischal, Hannah L Scanga, Danielle Black, J...> ;Ophthalmic Genetics. 2024 Apr 1
• Functional Vision in Patients With Biallelic USH2A Variants.
  Elise Heon, Michele Melia, Laura E Bocchino, Lassana Samarakoon, Jacque L Duncan, Allison R Ayala, Isabelle Audo, Chris Bradley, Janet K Cheetham, Gislin Dagnelie, Tod...> ;American Journal of Ophthalmology. 2024 Apr 1
• 1 citations
  Gene therapy in bestrophinopathies: Insights from preclinical studies in preparation for clinical trials.
  Amato, A., Wongchaisuwat, N., Lamborn, A., Schmidt, R., Everett, L., Yang, P., Pennesi, M.> ;Saudi Journal of Ophthalmology. 2023 Dec 1
• Optical coherence tomography angiography of choroidal neovascularization in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
  Wongchaisuwat, N., Wang, J., Gregor, A., Sahel, J., Nischal, K., Gillingham, M., Jia, Y., Yang, P., Everett, L., Pennesi, M.> ;American Journal of Ophthalmology Case Reports. 2023 Dec 1
• 1 citations
  Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy.
  Nida Wongchaisuwat, Alessia Amato, Andrew E Lamborn, Paul Yang, Lesley Everett, Mark E Pennesi> ;Saudi Journal of Ophthalmology. 2023 Oct 24
• 1 citations
  -associated retinopathy: genotype-phenotype correlations -study group report 3.
  Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Omar A Mahroo, Nikolas Pontikos, Maurício E Varg...> ;The British Journal of Ophthalmology. 2023 Oct 18
• 5 citations
  Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial.
  Robert E MacLaren, M Dominik Fischer, James A Gow, Byron L Lam, Eeva-Marja K Sankila, Aniz Girach, Sushil Panda, Dan Yoon, Guolin Zhao, Mark E Pennesi> ;Nature Medicine. 2023 Oct 1
• 1 citations
  Expanding the phenotypic and genotypic spectrum of patients with-related retinopathy.
  Mariana Matioli da Palma, Molly Marra, Austin D Igelman, Cristy A Ku, Amanda Burr, Katherine Andersen, Lesley A Everett, Fernanda B O Porto, Juliana Maria Ferraz Sallu...> ;Ophthalmic Genetics. 2024 Apr 1
• 1 citations
  Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel.
  David G Birch, Janet K Cheetham, Stephen P Daiger, Carel Hoyng, Christine Kay, Ian M MacDonald, Mark E Pennesi, Lori S Sullivan> ;Translational Vision Science & Technology. 2023 Jun 1
• Vitelliform maculopathy in MELAS syndrome.
  Cody Jahrig, Cristy A Ku, Molly Marra, Mark E Pennesi, Paul Yang> ;American Journal of Ophthalmology Case Reports. 2023 Jun 1
• 5 citations
  Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With RPE65-Related Retinopathy Treated With Voretigene Neparvovec-rzyl.
  Cristy A Ku, Austin D Igelman, Samuel J Huang, Huber Vasconcelos, Mariana Matioli da Palma, Steven T Bailey, Andreas K Lauer, Richard G Weleber, Paul Yang, Mark E Pennesi> ;Translational Vision Science & Technology. 2023 Apr 3
• Systematic assessment of the contribution of structural variants to inherited retinal diseases.
  Shu Wen, Meng Wang, Xinye Qian, Yumei Li, Keqing Wang, Jongsu Choi, Mark E Pennesi, Paul Yang, Molly Marra, Robert K Koenekoop, Irma Lopez, Anna Matynia, Michael Gorin...> ;Human Molecular Genetics. 2023 Jun 5
• 2 citations
  Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases.
  Hafiz Muhammad Jafar Hussain, Meng Wang, Austin Huang, Ryan Schmidt, Xinye Qian, Paul Yang, Molly Marra, Yumei Li, Mark E Pennesi, Rui Chen> ;Genes. 2023 Feb 9
• 1 citations
  Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment Through 2 Years.
  Jacque L Duncan, Peiyao Cheng, Maureen G Maguire, Allison A Ayala, David G Birch, Janet K Cheetham, Todd A Durham, Abigail T Fahim, Carel B Hoyng, Hiroshi Ishikawa, Mi...> ;American Journal of Ophthalmology. 2023 Jun 1
• 4 citations
  Foveal Cone Structure in Patients With Blue Cone Monochromacy.
  Emily J Patterson, Angelos Kalitzeos, Thomas M Kane, Navjit Singh, Joseph Kreis, Mark E Pennesi, Alison J Hardcastle, Jay Neitz, Maureen Neitz, Michel Michaelides, Jos...> ;Investigative Ophthalmology & Visual Science. 2022 Oct 3
• 1 citations
  A DOUBLE HYPERAUTOFLUORESCENT RING IN A 33-YEAR-OLD-FEMALE PATIENT.
  Mariana M da Palma, Molly Marra, Mark E Pennesi> ;Retinal Cases & Brief Reports. 2023 Jun 1
• 4 citations
  Iatrogenic choroidal neovascularization associated with subretinal gene therapy surgery.
  Kenneth W Price, Mark E Pennesi, Andreas K Lauer, Steven T Bailey> ;American Journal of Ophthalmology Case Reports. 2022 Sep 1
• 5 citations
  Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity.
  Eleonora M Lad, Jacque L Duncan, Wendi Liang, Maureen G Maguire, Allison R Ayala, Isabelle Audo, David G Birch, Joseph Carroll, Janet K Cheetham, Todd A Durham, Abigai...> ;American Journal of Ophthalmology. 2022 Dec 1
• 16 citations
  Three-Year Safety Results of SAR422459 (EIAV-ABCA4) Gene Therapy in Patients With ABCA4-Associated Stargardt Disease: An Open-Label Dose-Escalation Phase I/IIa Clinica...
  Maria A Parker, Laura R Erker, Isabelle Audo, Dongseok Choi, Saddek Mohand-Said, Kastytis Sestakauskas, Patrick Benoit, Terence Appelqvist, Melissa Krahmer, Caroline S...> ;American Journal of Ophthalmology. 2022 Aug 1
• A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advan...
  Mariana Matioli da Palma, Cristy Ku, Austin D Igelman, Amanda Burr, Liliya Shevchenko Sutherland, Celide Koerner, David Valle, Mark E Pennesi, Paul Yang> ;Ophthalmic Genetics. 2023 Apr 1
• 14 citations
  Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in Patients with X-Linked Retinoschisis: 1-Year Clinical Results.
  Mark Edward Pennesi, Paul Yang, David G Birch, Christina Y Weng, Anthony T Moore, Alessandro Iannaccone, Jason I Comander, Thiran Jayasundera, Jeffrey Chulay> ;Ophthalmology. Retina. 2022 Dec 1
• 5 citations
  The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene.
  David G Birch, Lassana Samarakoon, Michele Melia, Jacque L Duncan, Allison R Ayala, Isabelle Audo, Janet K Cheetham, Todd A Durham, Alessandro Iannaccone, Mark E Penne...> ;Investigative Ophthalmology & Visual Science. 2022 Mar 2
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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, Robert Lindblad, Byron L Lam, Judith Warner, Gary Edd Fish, Neal L Sklaver, Mark E Pennesi, John Heckenlively, Paul ..., JAMA
• OCT/SLO Offers a New Perspective on Retinal Disease.  
  Pennesi ME, Stewart JM, Retina Times
• Microperimetery and the MP-1.  
  Pennesi ME, Stewart JM, Retina Times
• VEGF Trap – A Potential New Alternative for Treating Neovascularization.  
  Pennesi ME, Stewart JM, Retina Times
• Sustained Deliver Steroids – New Treatment Options for Persistent Macular Edema.  
  Pennesi ME, Stewart JM, Retina Times
• Retinitis Pigmentosa.  
  Pennesi ME, Weleber RG, Francis PJ, Online chapter for British Medical
• Long-Term Characterization of Retinal Degeneration in rd1 and rd10 Mice Using Spectral Domain Optical Coherence Tomography.  
  Pennesi ME, Michaels KV, Magee SS, Maricle A, Davin SP, Garg AK, Gale MJ, Tu DC, Wen Y, Erker LR, Francis PJ, Invest Ophthalmol Vis Sci
• Retinal Degenerations Associated with Systemic Diseases.  
  Courtney RJ, Pennesi ME, International Ophthalmology Clinics
• Slow Insensitive Scotopic Responses in Leber Congenital Amaurosis Patients with AIPL1 mutations. Investigative Ophthalmology and Visual Sciences.  
  Pennesi ME, Stover NB, Stone EM, Chiang PW, Weleber RG, Invest Ophthalmol.Vis.Sci
• Expression and Localzation of Serotonin Receptors in the Mouse Retina.  
  Pennesi ME, Stoddard JW, Michaels KV, Blum ED, Maricle A, Francis PJ, Invest Ophthalmol Vis Sci
• Measuring the Performance of an Adaptive Optics Flood Illuminated Camera for Imaging the Cone Mosaic in a Clinical Setting.  
  Fay JD, Faridi A, Garg AK, Pennesi ME, Invest Ophthalmol Vis Sci
• Lentiviral Vector Gene Replacement Therapy in Stargardt Disease and Usher Syndrome Type 1b.  
  Stout JT, Wilson DJ, Weleber RG, Pennesi ME, Toomey M, Francis P, Sahel JA, Audo I, Mohand-Said S, Naylor SM, Invest Ophthalmol Vis Sci
• Characterization of Retinal Degeneration in rd1 and rd10 Mice Using Spectral Domain OCT.  
  Pennesi ME, Magee SS, Garg AK, Tu DC, Wen Y, Maricle A, Invest Ophthalmol Vis Sci
• Handheld Spectral Domain Optical Coherence Tomography in the Evaluation of Patients with Congenital Nystagmus.  
  Courtney RJ, Wen Y, Pickell SR, Weleber RG, Pennesi ME, Invest Ophthalmol Vis Sci
• Serotonin Receptor Expression in the Rodent Retina.  
  Michaels KV, Stoddard JW, Blum ED, Maricle A, Zhou E, Pennesi ME, Francis PJ, Invest Ophthalmol Vis Sci
• Slow Insensitive Scotopic Responses in Three Children With Leber Congenital Amaurosis (LCA): A New Electroretinogram (ERG) Phenotype?  
  Pennesi ME, Weleber RG, Invest Ophthalmol Vis Sci
• Preliminary Results of a New Method of Drug Delivery Into the Subretinal Space Using Antibody Conjugated Gold Nanoparticles.  
  Hayashi A, Naseri A, Pennesi ME, Lam H, de Juan E, Jr, Invest Ophthalmol Vis Sci
• Genetic Dissection of Retinal Pathways Using the Electroretinogram (ERG).  
  Pennesi ME, Abd-El-Barr MM, Saszik SM, et al, Invest Ophthalmol Vis Sci
• Relationship of Retinal Vasculature Development and Photoreceptor Degeneration in Mutant Rhodopsin Transgenic Rats.  
  Pennesi ME, Matthes MT, Yasumura D, La Vail MM, Invest Ophthalmol Vis Sci
• Safety of Intravitreal Moxifloxacin: Electroretinographic and Histopathologic Study.  
  Gao H, Pennesi ME, Iyer M, Qiao X, Holz ER, Mieler WF, Invest Ophthalmol Vis Sci
• ERGs from Bhlhb4 knockout mice reveal normal rod-driven a-waves but severely diminished b-waves.  
  Pennesi ME, Bramblett D, Tsai M-J, Wu SM, Invest Ophthalmol Vis Sci
• Functional Studies of a human rhodopsin-EGFP fusion in knock-in mice.  
  Kyle KA, Gross AK, Rubin WW, et al, Invest Ophthalmol Vis Sci
• Altered Lacrimal Response in Protein-kinase C deficient mice.  
  Basti S, Pennesi ME, Leitges M, et al, Invest Ophthalmol Vis Sci
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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.
• Retina. 
  Chapter: Retinitis Pigmentosa 
  Gregory-Evans KA, Pennesi ME, Weleber RGEditors: Ryan SJ.Edition 5,
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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
• Results from 12 years of experience with propofol for sedated ERGs.
  Pennesi ME, Stover NB, Johnsen S, et al, International Society for Clinical Electrophysiology in Vision, Padua, Italy
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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
• Adaptive Optic Imaging using the RTx1. 
  Oregon Ophthalmic Alumni Association
• Inherited Diseases of the Retina. 
  Casey Eye Institute, Resident Basic Science Series
• Genetic Diseases of the Retina. 
  Casey Eye Institute, Resident OKAP Review
• The Importance of Genetic Testing. 
  Foundation Fighting Blindness, Chapter Meeting
• Basics of Vision Screening. 
  Interdisciplinary Community Health and Education Exchange
• Fundamentals of the Electroretinogram. 
  Casey Eye Institute, Resident Lecture Series
• Imaging Techniques for Posterior Segment Conundrums. 
  Oregon Ophthal. Alumni Assoc
• Retinitis Pigmentosa – Have we made any progress? 
  Casey Eye Institute Grand Rounds
• Retinitis Pigmentosa. 
  Foundation Fighting Blindness, Portland Vision Seminar
• Genetic Diseases of the Retina. 
  Casey Eye Institute, Resident OKAP Review
• Common Inherited Genetic Diseases of the Retina. 
  Oregon Academy of Ophthalmology
• New Mouse Models of Retinal Degeneration. 
  Retina Foundation of the Southwest
• Fundamental Concepts of the ERG. 
  Baylor Department of Ophthalmology, Basic Science Series
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