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Katherine Uyhazi, MD, PhD
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Assistant Professor of Ophthalmology
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Department: Ophthalmology
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Graduate Group Affiliations
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Contact information
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Stellar Chance Laboratories, Rm 313
31 422 Curie Blvd
Philadelphia, PA 19104
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31 422 Curie Blvd
Philadelphia, PA 19104
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af
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Education:
21 8 B.S 14 (Biology) c
32 The College of New Jersey, 2005.
21 f M.D/Ph.D. 19 (Cell Biology) c
30 Yale School of Medicine, 2013.
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Permanent link21 8 B.S 14 (Biology) c
32 The College of New Jersey, 2005.
21 f M.D/Ph.D. 19 (Cell Biology) c
30 Yale School of Medicine, 2013.
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1c Retinitis pigmentosa
19 Stargardt disease
1a Cone rod dystrophy
22 Leber congenital amaurosis
16 Gyrate atrophy
21 Electroretinography (ERG)
16 Genetic testing
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19 Stem cell therapy
1c Retinal regeneration
21 Photoreceptor development
24 Murine models of eye disease
2c Single cell RNA sequencing (scRNAseq)
e 29
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Description of Clinical Expertise
30 Inherited retinal degenerations1c Retinitis pigmentosa
19 Stargardt disease
1a Cone rod dystrophy
22 Leber congenital amaurosis
16 Gyrate atrophy
21 Electroretinography (ERG)
16 Genetic testing
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Description of Research Expertise
25 Retinal gene therapy19 Stem cell therapy
1c Retinal regeneration
21 Photoreceptor development
24 Murine models of eye disease
2c Single cell RNA sequencing (scRNAseq)
e 29
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cb Pham K, Uyhazi KE.: Retinal Findings in Kjellin Syndrome. Ophthalmology Aug 2025 Notes: In press; published online ahead of print.
20d Aleman TS, Uyhazi KE, Roman AJ, Weber ML, O'Neil EC, Swider M, Sumaroka A, Maguire KH, Aleman EM, Santos AJ, Kim RJ, Parchinski KM, Billek A, Fradin M, Chung W, Margaritis P, Sun J, Scoles DH, Wu V, Garafalo AV, Jayagopal A, Yerxa B, Tuller S, Maguire AM, Bennett J, Cideciyan AV.: Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial. Mol Ther 33: 4784-4798, Oct 2025.
117 Wilder RJ, An AF, Bell BA, Fossett G, Wojciechowski AM, Shpylchak I, Uyhazi KE.: Intraretinal variation in disease severity in the Oat(rhg) mouse model of gyrate atrophy. Exp Eye Res 255: 110382, June 2025.
221 Aleman TS, Roman AJ, Uyhazi KE, Jiang YY, Bedoukian EC, Sumaroka A, Wu V, Swider M, Viarbitskaya I, Russell RC, Shagena EO, Santos AJ, Serrano LW, Parchinski KM, Kim RJ, Weber ML, Garafalo AV, Thompson DA, Maguire AM, Bennett J, Scoles DH, O'Neil EC, Morgan JIW, Cideciyan AV.: Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients. Invest Ophthalmol Vis Sci 65: 30, Dec 2024.
154 Vrathasha V, Nikonov S, Bell BA, He J, Bungatavula Y, Uyhazi KE, Murthy Chavali VR.: Transplanted human induced pluripotent stem cells- derived retinal ganglion cells embed within mouse retinas and are electrophysiologically functional. iScience 25: 105308, Oct 2022.
b9 Uyhazi KE, Bennett J.: A CRISPR view of the 2020 Nobel Prize in Chemistry. J Clin Invest 131: e145214, Jan 2021.
fc Uyhazi KE, Binenbaum G, Carducci N, Zackai EH, Aleman TS: Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome. Ophthalmic Genetics 39(3): 399-404, Jun 2018.
171 Ammar MJ, Scavelli KT, Uyhazi KE, Bedoukian EC, Serrano LW, Edelstein ID, Vergilio G, Cooper RF, Morgan JIW, Kumar P, Aleman TS: Enhanced S-Cone Syndrome: Visual Function, Cross-Sectional Imaging, and Cellular Structure with Adaptive Optics Ophthalmoscopy. Retinal Cases & Brief Reports Jul 2019.
e0 Uyhazi KE, Bennett J: Blinded by the light: a nonhuman primate model of achromatopsia. The Journal of Clinical Investigation 129(2): 513-515, Feb 2019.
124 Uyhazi KE, Yang Y, Liu N, Qi H, Huang XA, Mak W, Weatherbee SD, de Prisco N, Gennarino VA, Song X, Lin H: Pumilio Proteins Utilize Distinct Regulatory Mechanisms to Achieve Complementary Functions Required for Pluripotency and Embryogenesis. 3c PNAS 117(14): 7851-7862, Apr 2020.
f4 Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS : Treatment Potential for LCA5-Associated Leber Congenital Amaurosis. 48 Invest Ophthalmol Vis Sci 61(5): 30, May 2020.
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Selected Publications
db Yano JJ, Wei Z, Gajjar K, Barati-Stec K, Yang E, Uyhazi KE: Lineage tracing reveals photoreceptor precursor cell subpopulations that contribute to murine retinogenesis. 5c Frontiers in Cell and Developmental Biology 14(1814134), June 2026.cb Pham K, Uyhazi KE.: Retinal Findings in Kjellin Syndrome. Ophthalmology Aug 2025 Notes: In press; published online ahead of print.
20d Aleman TS, Uyhazi KE, Roman AJ, Weber ML, O'Neil EC, Swider M, Sumaroka A, Maguire KH, Aleman EM, Santos AJ, Kim RJ, Parchinski KM, Billek A, Fradin M, Chung W, Margaritis P, Sun J, Scoles DH, Wu V, Garafalo AV, Jayagopal A, Yerxa B, Tuller S, Maguire AM, Bennett J, Cideciyan AV.: Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial. Mol Ther 33: 4784-4798, Oct 2025.
117 Wilder RJ, An AF, Bell BA, Fossett G, Wojciechowski AM, Shpylchak I, Uyhazi KE.: Intraretinal variation in disease severity in the Oat(rhg) mouse model of gyrate atrophy. Exp Eye Res 255: 110382, June 2025.
221 Aleman TS, Roman AJ, Uyhazi KE, Jiang YY, Bedoukian EC, Sumaroka A, Wu V, Swider M, Viarbitskaya I, Russell RC, Shagena EO, Santos AJ, Serrano LW, Parchinski KM, Kim RJ, Weber ML, Garafalo AV, Thompson DA, Maguire AM, Bennett J, Scoles DH, O'Neil EC, Morgan JIW, Cideciyan AV.: Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients. Invest Ophthalmol Vis Sci 65: 30, Dec 2024.
154 Vrathasha V, Nikonov S, Bell BA, He J, Bungatavula Y, Uyhazi KE, Murthy Chavali VR.: Transplanted human induced pluripotent stem cells- derived retinal ganglion cells embed within mouse retinas and are electrophysiologically functional. iScience 25: 105308, Oct 2022.
b9 Uyhazi KE, Bennett J.: A CRISPR view of the 2020 Nobel Prize in Chemistry. J Clin Invest 131: e145214, Jan 2021.
fc Uyhazi KE, Binenbaum G, Carducci N, Zackai EH, Aleman TS: Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome. Ophthalmic Genetics 39(3): 399-404, Jun 2018.
171 Ammar MJ, Scavelli KT, Uyhazi KE, Bedoukian EC, Serrano LW, Edelstein ID, Vergilio G, Cooper RF, Morgan JIW, Kumar P, Aleman TS: Enhanced S-Cone Syndrome: Visual Function, Cross-Sectional Imaging, and Cellular Structure with Adaptive Optics Ophthalmoscopy. Retinal Cases & Brief Reports Jul 2019.
e0 Uyhazi KE, Bennett J: Blinded by the light: a nonhuman primate model of achromatopsia. The Journal of Clinical Investigation 129(2): 513-515, Feb 2019.
124 Uyhazi KE, Yang Y, Liu N, Qi H, Huang XA, Mak W, Weatherbee SD, de Prisco N, Gennarino VA, Song X, Lin H: Pumilio Proteins Utilize Distinct Regulatory Mechanisms to Achieve Complementary Functions Required for Pluripotency and Embryogenesis. 3c PNAS 117(14): 7851-7862, Apr 2020.
f4 Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS : Treatment Potential for LCA5-Associated Leber Congenital Amaurosis. 48 Invest Ophthalmol Vis Sci 61(5): 30, May 2020.
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