University of Pennsylvania Health System

Department of Ophthalmology

Ophthalmology Faculty

Faculty Overview

Artur V. Cideciyan, PhD

faculty photo
Research Professor of Ophthalmology
Department: Ophthalmology

Contact information
Scheie Eye Institute
51 N. 39th Street
Philadelphia, PA 19104
B.S. (Mechanical Engineering)
University of Miami, 1986.
M.S. (Biomedical Engineering)
University of Miami, 1988.
Ph.D. (Biomedical Engineering)
University of Miami, 1992.
Post-Graduate Training
Research Associate, Department of Ophthalmology, University of Miami, 1992-1993.
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Description of Research Expertise

Dr. Cideciyan’s primary research interests involve understanding of disease mechanisms in human hereditary retinal degenerations and evaluation of mechanism-specific treatments in these blinding conditions. This is accomplished by the use of non-invasive surrogate measures of biochemical and morphological abnormalities of the retina and the RPE. Knowledge obtained from human retinopathies is also used to glean molecular foundations of normal human vision. Furthermore, studies performed in parallel with non-invasive experimental methods in animal models of these human diseases are used to determine the correspondence between the models and the patients, and pre-clinical therapeutic strategies are tested as appropriate.

Research methods of the laboratory include imaging, electrophysiology and psychophysics as well as mathematical modeling and software development. Optical coherence tomography (OCT) based methods are used to define retinal structure and light scatter characteristics; autofluorescence imaging based methods are used to elucidate RPE abnormalities; electroretinogram (ERG) photoresponses and psychophysical methods are used understand global and local rod and cone photoreceptor dysfunction; and pupillary imaging is used to define post-retinal visual function.

Key Words
Retinal degeneration, retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), photoreceptors, visual cycle, rhodopsin, autofluorescence, lipofuscin, melanin, optical coherence tomography, dark adaptation, electroretinography, pupilometry, ABCA4, ABCR, GUCY2D, RHO, RPGR, RPE65

Selected Publications

Cideciyan AV, Jacobson SG, Beltran WA, Sumaroka A, Swider M, Iwabe S, Roman AJ, Olivares MB, Schwartz SB, Komaromy AM, Hauswirth WW, Aguirre GD.: Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement. Proceedings of the National Academy of Sciences USA 110: E517-25, 2013.

Jacobson SG, Cideciyan AV, Roman AJ, Sumaroka A, Schwartz SB, Heon E, Hauswirth WW.: Improvement and decline in vision with gene therapy in childhood blindness. New England Journal of Medicine 372: 1920-1926, 2015.

Cideciyan AV, Aguirre GK, Jacobson SG, Butt OH, Schwartz SB, Swider M, Roman AJ, Sadigh S, Hauswirth WW.: Pseudo-fovea formation after gene therapy for RPE65-LCA. Investigative Ophthalmology and Visual Science 56: 526-537, 2015.

Cideciyan AV, Hauswirth WW, Aleman TS, Kaushal S, Schwartz SB, Boye SL, Windsor EAM, Conlon TJ, Sumaroka A, Pang J, Roman AJ, Byrne BJ, Jacobson SG.: Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at one year. Human Gene Therapy 20: 999-1004, 2009.

Beltran WA, Cideciyan AV, Guziewicz KE, Iwabe S, Swider M, Scott EM, Savina SV, Ruthel G, Stefano F, Zhang L, Zorger R, Sumaroka A, Jacobson SG, Aguirre GD: Canine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerations. PloS One 9(3): e90390, 2014.

Cideciyan AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed ZM, Kohl S, Wissinger B, Jacobson SG.: Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. Human Gene Therapy 24(12): 993-1006, 2013.

Beltran WA, Cideciyan AV, Lewin AS, Iwabe1 S, Khanna H, Sumaroka A, Chiodo VA, Fajardo DS, Román AJ, Deng W-T, Swider M, Alemán TS, Boye SL, Genini S, Swaroop A, Hauswirth WW, Jacobson SG, Aguirre GD.: Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proceedings of the National Academy of Sciences USA 109: 2132-2137, 2012.

Cideciyan AV, Swider M, Aleman TS, Feuer WJ, Schwartz SB, Russell RC, Steinberg JD, Stone EM, Jacobson SG.: Macular function in macular degenerations: Repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials. Investigative Ophthalmology & Visual Science 53: 841-852, 2012.

Cideciyan AV, Rachel RA, Aleman TS, Swider M, Schwartz SB, Sumaroka A, Roman AJ, Stone EM, Jacobson SG, Swaroop A: Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Human Molecular Genetics 20: 1411-14123, 2011.

Jacobson SG, Cideciyan AV, Ratnakaram R, Heon E, Schwartz SB, Roman AJ, Peden MC, Aleman TS, Boye SL, Sumaroka A, Conlon TJ, Calcedo R, Pang J-J, Erger KE, Olivares MB, Mullins CL, Swider M, Kaushal S, Feuer WJ, Iannaccone A, Fishman GA, Stone EM, Byrne BJ, Hauswirth WW: Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations: Safety and Efficacy in 15 Children and Adults Followed Up to 3 Years. Archives of Ophthalmology 130: 9-24, 2012.

Cideciyan AV: Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. Progress in Retinal and Eye Research 29: 398-427, 2010.

Cideciyan AV, Hauswirth WW, Aleman TS, Kaushal S, Schwartz SB, Boye SL, Windsor EAM, Conlon TJ, Sumaroka A, Roman AJ, Byrne BJ, Jacobson SG. : Vision 1 year after gene therapy for Leber’s congenital amaurosis. New England Journal of Medicine 361: 725-727, 2009.

Cideciyan AV, Aleman TS, Boye SL, Schwartz SB, Kaushal S, Roman AJ, Pang J-j, Sumaroka A, Windsor EAM, Wilson JM, Flotte TR, Fishman GA, Heon E, Stone EM, Byrne BJ, Jacobson SG, Hauswirth WW.: Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kenetics. Proceedings of the National Academy of Sciences USA 105: 15112-15117, 2008.

Cideciyan AV, Swider M, Aleman TS, Tsybovsky Y, Schwartz SB, Windsor EA, Roman AJ, Sumaroka A, Steinberg JD, Jacobson SG, Stone EM, Palczewski K. : ABCA4 disease progression and a proposed strategy for gene therapy. Human Molecular Genetics 18: 931-941, 2009.

Cideciyan AV, Swider M, Aleman TS, Roman MI, Sumaroka A, Schwartz SB, Stone EM, Jacobson SG.: Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations. Journal of the Optical Society of America, A 24(5): 1457-67, 2007.

Aleman TS, Cideciyan AV, Windsor EAM, Schwartz SB, Swider M, Chico JD, Sumaroka A, Pantelyat AY, Duncan KG, Gardner LM, Emmons JM, Steinberg JD, Stone EM, Jacobson SG.: Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations. Investigative Ophthalmology & Visual Science 48(3): 1319-29, 2007.

Cideciyan AV, Swider M, Aleman TS, Sumaroka A, Schwartz SB, Roman MI, Milam AH, Bennett J, Stone EM, Jacobson SG.: ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina. Investigative Ophthalmology & Visual Science 46(12): 4739-46, 2005.

Cideciyan AV, Jacobson SG, Aleman TS, Gu D, Pearce-Kelling SE, Sumaroka A, Acland GM, Aguirre GD.: In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa. Proceedings of the National Academy of Sciences USA 102(14): 5233-8, 2005.

Cideciyan AV, Aleman TS, Swider M, Schwartz SB, Steinberg JD, Brucker AJ, Maguire AM, Bennett J, Stone EM, Jacobson SG. : Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: A reappraisal of the human disease sequence. Human Molecular Genetics 13: 525-534, 2004.

Kijas JW, Cideciyan AV, Aleman TS, Pianta MJ, Pearce-Kelling SE, Miller BJ, Jacobson SG, Aguirre GD and Acland GM.: Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proceedings of the National Academy of Sciences USA 99: 6328-6333, 2002.

Cideciyan AV, Jacobson SG, Gupta N, Osawa S, Locke KG, Weiss ER, Wright AF, Birch DG, Milam AH. : Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3. Investigative Ophthalmology & Visual Science 44: 1268-1274, 2003.

Cideciyan AV. : In vivo assessment of photoreceptor function in human diseases caused by photoreceptor-specific gene mutations. Methods in Enzymology 316: 611-626, 2000.

Aleman TS, LaVail MM, Montemayor R, Ying G-S., Maguire MM, Laties AM, Jacobson SG, Cideciyan AV. : Augmented rod bipolar cell function in partial photoreceptor loss: an ERG study in P23H rhodopsin transgenic and aging normal rats. Vision Research 41: 2779-2797, 2001.

Cideciyan AV, Haeseleer F, Fariss RN, Aleman TS, Jang G-F, Verlinde CLMJ, Marmor MF, Jacobson SG, Palczewski K.: Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man. Visual Neuroscience 17: 667-678, 2000.

Cideciyan AV, Lamb TD, Pugh EN Jr, Huang Y, Jacobson SG. : Rod plateaux during dark adaptation in Sorsby's fundus dystrophy and vitamin A deficiency. Investigative Ophthalmology & Visual Science 38: 1786-1794, 1997.

Cideciyan AV, Hood DC, Huang Y, Banin E, Li Z-Y, Stone EM, Milam AH, Jacobson SG.: Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proceedings of the National Academy of Sciences USA 95: 7103-7108, 1998.

Cideciyan AV, Zhao X, Nielsen L, Khani SC, Jacobson SG, Palczewski K. : Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man. Proceedings of the National Academy of Sciences USA 95: 328-333, 1998.

Cideciyan AV and Mayrovitz HN.: Microcomputer assisted determination of regional myocardial function. Medical & Biological Engineering & Computing 28: 591-594, 1990.

Cideciyan AV and Jacobson SG. : Image analysis of the tapetal-like reflex in heterozygotes of X-linked retinitis pigmentosa. Investigative Ophthalmology & Visual Science. 35: 3812-3824, 1994.

Cideciyan AV. : Registration of ocular fundus images by cross-correlation of triple invariant image descriptors. IEEE Engineering in Medicine & Biology 14: 52-58, 1995.

Cideciyan AV and Jacobson SG. : An alternative phototransduction model for human rod and cone ERG a-waves: normal parameters and variation with age. Vision Research 36: 2609-2621, 1996.

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Last updated: 01/23/2017
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