Optical coherence tomography (OCT) — Clinical

SUMMARY

OCT-clinical summary

 


96 PUBLICATIONS USING QUANTITATIVE OCT IN PATIENTS

220. Jacobson SG, CIDECIYAN AV, Ho AC, Peshenko IV, Garafalo AV, Roman AJ, Sumaroka A, Wu V, Krishnan AK, Sheplock R, Boye SL, Dizhoor AM, Boye SE. Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations. iScience, 24, 102409, 2021. [PubMed] [DOI] [Clinicaltrials.gov] [Penn Press Release]

219. CIDECIYAN AV, Jacobson SG, Ho AC, Garafalo AV, Roman AJ, Sumaroka A, Krishnan AK, Swider M, Schwartz MR, Girach A. Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report. Nature Medicine, 27:785-789, 2021. [PubMed] [DOI] [Clinicaltrials.gov] [Penn Press Release]

218. Jacobson SG, CIDECIYAN AV, Sumaroka A, Roman AJ, Wu V, Swider M, Sheplock R, Krishnan AK, Garafalo AV. Leber congenital amaurosis due to GUCY2D mutations: Longitudinal analysis of retinal structure and visual function. International Journal of Molecular Sciences, 22(4), 2031, 2021. [PubMed] [DOI]

213. CIDECIYAN AV, Jacobson SG, Roman AJ, Sumaroka A, Wu V, Charng J, Lisi B, Swider M, Aguirre GD, Beltran WA. Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations. Scientific Reports, 10:12552, 2020. [PubMed] [DOI] [PDF] [Ocular Biomarkers Collection]

212. Sumaroka A, CIDECIYAN AV, Sheplock R, Wu V, Kohl S, Wissinger B, Jacobson SG. Foveal therapy in blue cone monochromacy: Predictions of visual potential from artificial intelligence. Frontiers in Neuroscience, 14:800, 2020. [PubMed] [DOI] [Retinal Degeneration and Therapy Approaches]

203. Sumaroka A, CIDECIYAN AV, Charng J, Wu V, Powers CA, Iyer BS, Lisi B, Swider M, Jacobson SG. Autosomal dominant retinitis pigmentosa due to class B Rhodopsin mutations: An objective outcome for future treatment trials. International Journal of Molecular Sciences, 20:E5344, 2019. [PubMed] [Special Issue — Retinal Degeneration: From Pathophysiology to Therapeutic Approaches]

199. CIDECIYAN AV, Jacobson SG. Leber Congenital Amaurosis (LCA): Potential for improvement of Vision. Investigative Ophthalmology & Visual Science, 60(5):1680-1695. [PubMed]

198. Peshenko IV, CIDECIYAN AV, Sumaroka A, Olshevskaya EV, Scholten A, Abbas S, Koch K-W, Jacobson SG, Dizhoor AM. A Gly86Arg mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration. Journal of Biological Chemistry, 94:3476-3488, 2019. [PubMed]

197. CIDECIYAN AV, Jacobson SG, Drack AV, Ho AC, Charng J, Garafalo AV, Roman AJ, Sumaroka A, Han IC, Hochstedler MD, Pfeifer WL, Sohn EH, Taiel M, Schwartz MR, Biasutto P, de Wit W, Cheetham ME, Adamson P, Rodman DM, Platenburg G, Tome MD, Balikova I, Nerinckx F, De Zaeytijd J, Van Cauwenbergh C, Leroy BP, Russell SR. Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect. Nature Medicine, 25:225-228, 2019. [PubMed] [Nat Med: News and Views] [Clinicaltrials.gov] [UPenn Press Release] [ProQR Press Release] 

196. Sumaroka A, Garafalo AV, CIDECIYAN AV, Charng J, Roman AJ, Choi W, Saxena S, Aksianiuk V, Kohl S, Wissinger B, Jacobson SG. Blue cone monochromacy caused by the C203R missense mutation or large deletion mutations.Investigative Ophthalmology & Visual Science 59:5762-5772, 2018. [PubMed]

187. Guziewicz KE, CIDECIYAN AV, Beltran WA, Komaromy AM, Dufour VL, Swider M, Iwabe S, Sumaroka A, Kendrick BT, Ruthel G, Chiodo VA, Heon E, Hauswirth WW, Jacobson SG, Aguirre GD. BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure. Proceedings of the National Academy of Sciences USA, 115:E2839-E2848, 2018. [PubMed] [PDF] [UPenn Press Release] [PNAS Podcast]

182. McGuigan DB, Heon E, CIDECIYAN AV, Ratnapriya R, Lu M, Sumaroka A, Roman AJ, Batmanabane V, Garafalo AV, Stone EM, Swaroop A, Jacobson SG. EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression. Genes 8, E178, 2017. [PubMed]

175. Jacobson SG, CIDECIYAN AV, Sumaroka A, Roman AJ, Charng J, Lu M, Choi W, Sheplock R, Swider M, Kosyk MS, Schwartz SB, Stone EM, Fishman GA. Outcome measures for clinical trials of Leber congenital amaurosis caused by the intronic mutation in the CEP290 gene. Investigative Ophthalmology & Visual Science 58:2609-2622, 2017. [PubMed]

172. Jacobson SG, CIDECIYAN AV, Sumaroka A, Roman AJ, Charng J, Lu M, Choudhury S, Schwartz SB, Heon E, Fishman GA, Boye SE. Defining outcomes for clinical trials of Leber congenital amaurosis caused by GUCY2D mutations. American Journal of Ophthalmology 77:44–57, 2017. [PubMed]

171. Aguirre  GK, Butt OH, Datta R, Roman AJ, Sumaroka A, Schwartz SB, CIDECIYAN AV, Samuel G. Jacobson. Postretinal structure and function in severe congenital photoreceptor blindness caused by mutations in the GUCY2D gene. Investigative Ophthalmology & Visual Science 58:959-973, 2017. [PubMed]

168. Charng J, CIDECIYAN AV, Jacobson SG, Sumaroka A, Schwartz SB, Swider M, Roman AJ, Sheplock R, Anand M, Peden MC, Khanna H, Heon E, Wright AF, Swaroop A. Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. Human Molecular Genetics 25:5444–5459, 2016. [PubMed]

167. Jacobson SG, McGuigan DB, Sumaroka A, Roman AJ, Gruzensky ML, Sheplock R, Palma J, Schwartz SB, Aleman TS, CIDECIYAN AV. Complexity of the class B phenotype in autosomal dominant retinitis pigmentosa due to rhodopsin mutations. Investigative Ophthalmology & Visual Science 57:4847-4858, 2016. [PubMed]

166. Downs LM, Scott EM, CIDECIYAN AV, Iwabe S, Dufour V, Gardiner KL, Genini S, Marinho LF, Sumaroka A, Kosyk MS, Swider M, Aguirre GK, Jacobson SG, Beltran WA, Aguirre GD. Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.  Human Molecular Genetics 25:4211-4226, 2016. [PubMed]

164. Heon E, Alabduljalil T, Iii DB, CIDECIYAN AV, Li S, Chen S, Jacobson SG. Visual function and central retinal structure in Choroideremia. Investigative Ophthalmology & Visual Science 57:OCT377-87, 2016. [PubMed]

163. Sumaroka A, Matsui R, CIDECIYAN AV, McGuigan DB 3rd, Sheplock R, Schwartz SB, Jacobson SG. Outer retinal changes including the ellipsoid zone band in Usher syndrome 1B due to MYO7A mutations. Investigative Ophthalmology & Visual Science 57:OCT253-61, 2016. [PubMed]

158. Jacobson SG, Matsui R, Sumaroka A, CIDECIYAN AV. Retinal structure measurements as inclusion criteria for stem cell-based therapies of retinal degenerations. Investigative Ophthalmology & Visual Science 57:ORSFn1-ORSFn9, 2016. [PubMed]

157. Matsui R, McGuigan III DB, Gruzensky ML, Aleman TS, Schwartz SB, Sumaroka A, Koenekoop RK, CIDECIYAN AV, Jacobson SG. SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa. Ophthalmic Genetics 37:333-338, 2016. [PubMed]

155. Jacobson SG, CIDECIYAN AV, Huang WC, Sumaroka A, Nam HJ, Sheplock R, Schwartz SB. Leber congenital amaurosis: Genotypes and retinal structure phenotypes. Advances in Experimental Medicine and Biology 854:169-75, 2016. [PubMed]

153. Matsui R, CIDECIYAN AV, Schwartz SB, Sumaroka A, Roman AJ, Swider M, Huang WC, Sheplock R, Jacobson SG. Molecular heterogeneity within the clinical diagnosis of pericentral retinal degeneration. Investigative Ophthalmology and Visual Science 56:6007-6018, 2015. [PubMed]

152. CIDECIYAN AV, Swider M, Schwartz SB, Stone EM, Jacobson SG. Predicting progression of ABCA4-associated retinal degenerations based on longitudinal measurements of the leading disease front. Investigative Ophthalmology and Visual Science 56:5946-5955, 2015. [PubMed]

149. CIDECIYAN AV, Swider M, Jacobson SG. Autofluorescence imaging with near-infrared excitation: Normalization by reflectance to reduce signal from choroidal fluorophores. Investigative Ophthalmology and Visual Science 56:3393–3406, 2015. [PubMed]

148. 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. [PubMed] [Editorial] [NEI Press Release] [Penn Press Release] [Science Now]

147. Luo X, CIDECIYAN AV, Iannaccone A, Roman AJ, Ditta LC, Jennings BJ, Yatsenko SA, Sheplock R, Sumaroka A, Swider M, Schwartz SB, Wissinger B, Kohl S, Jacobson SG. Blue cone monochromacy: Visual function and efficacy outcome measures for clinical trials. PLoS One 10(4): e0125700, 2015. [PubMed] [PDF]

144. Zelinger L, CIDECIYAN AV, Kohl S, Schwartz SB, Rosenmann A, Eli D, Sumaroka A, Roman AJ, Luo X, Brown C, Rosin B, Blumenfeld A, Wissinger B, Jacobson SG, Banin E, Sharon D. Genetics and disease expression in the CNGA3 form of achromatopsia: Steps on the path to gene therapy. Ophthalmology 122:997-1007, 2015.[PubMed]

141. Sadigh S, Luo X, CIDECIYAN AV, Sumaroka A, Boxley SL, Hall LM, Sheplock R, Stambolian DS, Jacobson SG. Drusen and photoreceptor abnormalities in african-americans with intermediate non-neovascular age-related macular degeneration. Current Eye Research 40:398-406, 2015. [PubMed]

140. Jacobson SG, CIDECIYAN AV, Huang WC, Sumaroka A, Roman AJ, Schwartz SB, Luo X, Sheplock R, Dauber JM, Swider M, Stone EM. TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones. Investigative Ophthalmology & Visual Science 55:5354-64, 2014. [PubMed]

139. Jacobson SG, CIDECIYAN AV, Sumaroka A, Roman AJ, Wright AF. Late-onset retinal degeneration caused by C1QTNF5 mutation: Sub-retinal pigment epithelium deposits and visual consequences. JAMA Ophthalmology 132:1252-1255, 2014. [PubMed]

136. Huang WC, CIDECIYAN AV, Roman AJ, Sumaroka A, Sheplock R, Schwartz SB, Stone EM, Jacobson SG. Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations. Investigative Ophthalmology & Visual Science 55:1810–1822, 2014. [PubMed]

135. 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 24:993–1006, 2013. [PubMed]

132. Jacobson SG, Sumaroka A, Luo X, CIDECIYAN AV. Retinal optogenetic therapies: clinical criteria for candidacy. Clinical Genetics 84:175–182, 2013. [PubMed]

131. Sadigh S, CIDECIYAN AV, Sumaroka A, Huang WC, Luo X, Swider M, Steinberg JD, Stambolian D, Jacobson SG. Abnormal thickening as well as thinning of the photoreceptor layer in intermediate age-related macular degeneration. Investigative Ophthalmology & Visual Science 54:1603-1612, 2013. [PubMed]

129. 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. [PubMed] [NEI News Brief] [Penn News] [Commentary] [WOC Lecture] [PDF]

128. Jacobson SG, CIDECIYAN AV, Peshenko IV, Sumaroka A, Olshevskaya EV, Cao L, Schwartz SB, Roman AJ, Olivares MB, Sadigh S, Yau K-W, Heon E, Stone EM,Dizhoor AM. Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. Human Molecular Genetics, 22:168-183, 2013. [PubMed]

126. 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 retinitispigmentosa. Proceedings of the National Academy of Sciences USA 109:2132-2137, 2012. [PubMed] [Penn News] [PDF]

124. 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. [PubMed]

123. Dinculescu A, Estreicher J, Zenteno JC, Aleman TS, Schwartz SB, Huang WC, Roman AJ, Sumaroka A, Li Q, Deng W-T, Min S-H, Chiodo VA, Neeley A, Liu X, Shu X, Matias-Florentino M, Buentello-Volante B, Boye SL, CIDECIYAN AV, Hauswirth WW, Jacobson SG. Gene therapy for retinitis pigmentosa caused by MFRP (Membrane-type Frizzled Related Protein) mutations: Human phenotype and preliminary proof-of-concept. Human Gene Therapy 23:367-376, 2012. [PubMed]

122. 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, ErgerKE, 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 fifteen children and adults followed up to three years. Archives of Ophthalmology 130:9-24, 2012.[PubMed]

121. Stone EM, Luo X, Heon E, Lam BL, Weleber RG, Halder JA, Affatigato LM, Goldberg JB, Sumaroka A, Schwartz SB, CIDECIYAN AV, Jacobson SG. Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene. Investigative Ophthalmology & Visual Science, 52:9665–9673, 2011. [PubMed]

120. Jacobson SG, CIDECIYAN AV, Gibbs D, Sumaroka A, Roman AJ, Aleman TS, Schwartz SB, Olivares MB, Russell RC, Kenna MA, Kimberling WJ, Rehm HL, Williams DS. Retinal disease course in Usher syndrome 1B due to MYO7A mutations. Investigative Ophthalmology & Visual Science, 52:7924-36, 2011. [PubMed]

119. Aleman TS, CIDECIYAN AV, Aguirre GK, Huang WC, Mullins CL, Roman AJ, Sumaroka A, Olivares MB, Tsai FF, Schwartz SB, Vandenberghe LH, Limberis MP, Stone EM, Bell P, Wilson JM, Jacobson SG. Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model. Investigative Ophthalmology & Visual Science, 52:6898-6910, 2011. [PubMed]

118. Mustafi D, Kevany BM, Genoud C, Okano K, CIDECIYAN AV, Sumaroka A, Roman AJ, Jacobson SG, Engel A, Adams MD, Palczewski K. Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration. FASEB Journal, 25:3157-3176, 2011. [PubMed]

117. Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryotzkin A, Bandah-Rozenfeld D, Ben Yosef T, Merin S, Schwartz SB, CIDECIYAN AV, Jacobson SG, Sharon D. A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. American Journal of Human Genetics, 88:207-215, 2011. [PubMed]

116. CIDECIYAN AV, Rachel RA, Aleman TS, Swider M, Schwartz SB, Sumaroka A, Roman AJ, Stone AM, 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, 20:1411-1423, 2011. [PubMed]

115. Sakami S, Maeda T, Bereta G, Okano K, Golczak M, Sumaroka A, Roman AJ, CIDECIYAN AV, Jacobson SG, Palczewski K. Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations. Journal of Biological Chemistry, 286:10551-10567, 2011. [PubMed]

114. Stone EM, CIDECIYAN AV, Aleman TS, Scheetz TE, Sumaroka A, Ehlinger MA, Schwartz SB, Fishman GA, Traboulsi EI, Lam BL, Fulton AB, Mullins RF, Sheffield VC, Jacobson SG. Variations in NPHP5 in patients with nonsyndromic Leber congenital amaurosis (LCA) and Senior-Loken syndrome. Archives of Ophthalmology, 129:81-87, 2011. [PubMed]

113. Jacobson SG, CIDECIYAN AV, Aleman TS, Sumaroka A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining. Investigative Ophthalmology & Visual Science, 52:70-79, 2011. [PubMed]

111. Banin E, Bandah-Rosenfeld D, Obolensky A, CIDECIYAN AV, Aleman TS, Marks-Ohana D, Sela M, Boye S, Sumaroka A, Roman AJ, Schwartz SB, Hauswirth WW, Jacobson SG, Sharon D. Molecular anthropology meets genetic medicine to treat blindness in the north african Jewish population: Human gene therapy initiated in Israel. Human Gene Therapy, 21:1749-1757, 2010. [PubMed]

110. Caruso RC, Aleman TS, CIDECIYAN AV, Roman AJ, Sumaroka A, Mullins CL, Boye SL, Hauswirth WW, Jacobson SG. Retinal disease in Rpe65-deficient mice: comparison to human Leber congenital amaurosis due to RPE65 mutations. Investigative Ophthalmology & Visual Science, 51:5304-5313, 2010. [PubMed]

108. Jacobson SG, Roman AJ, Aleman TS, Sumaroka A, Herrera W, Windsor EAM, Atkinson LA, Schwartz SB, Steinberg JD, CIDECIYAN AV. Normal central retinal function and structure preserved in retinitis pigmentosa. Investigative Ophthalmology & Visual Science, 51:1079 –1085, 2010. [PubMed]

107. Aleman TS, Soumittra N, CIDECIYAN AV, Sumaroka AM, Ramprasad VL, Herrera W, Windsor EAM, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG. CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. Investigative Ophthalmology & Visual Science, 50:5944-5954, 2009. [PubMed]

106. 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 1 year. Human Gene Therapy, 20:999-1004, 2009.[PubMed] [Reprint]

105. Gibbs D, CIDECIYAN AV, Jacobson SG, Williams DS. Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence. Investigative Ophthalmology & Visual Science, 50:4386-4393, 2009. [PubMed]

103. Jacobson SG, Aleman TS, CIDECIYAN AV, Sumaroka A, Schwartz SB, Windsor EAM, Swider M, Herrera W, Stone EM. Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization. Molecular Vision, 15:1098-1106, 2009. [PubMed] [PDF]

102. Maeda T, CIDECIYAN AV, Maeda A, Golczak M, Aleman TS, Jacobson SG, Palczewski K. Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate. Human Molecular Genetics, 18:2277-2287, 2009. [PubMed]

101. Jacobson SG, Aleman TS, CIDECIYAN AV, Roman AJ, Sumaroka A, Windsor EAM, Schwartz SB, Heon E, Stone EM. Defining the residual vision in Leber congenital amaurosis caused by RPE65 mutations. Investigative Ophthalmology & Visual Science, 50:2368-2375, 2009. [PubMed]

100. Jacobson SG, Aleman TS, Sumaroka A, CIDECIYAN AV, Roman AJ, Windsor EAM, Schwartz SB, Rehm HL, Kimberling WJ. Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. Investigative Ophthalmology & Visual Science, 50:1886-1894, 2009. [PubMed]

98. 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 kinetics. Proceedings of the National Academy of Sciences USA, 105: 15112-15117, 2008. [PubMed] [PDF]

97. Hauswirth WW, Aleman TS, Kaushal S, CIDECIYAN AV, Schwartz SB, Wang L, Conlon TJ, Boye SL, Flotte TR, Byrne BJ, Jacobson SG. Treatment of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Human Gene Therapy, 19:979-990, 2008. [PubMed]

96. Aleman TS, Lam BL, CIDECIYAN AV, Sumaroka A, Windsor EAM, Roman AJ, Schwartz SB, Stone EM, Jacobson SG. Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets. Eye, 23:230-233, 2008. [PubMed]

95. Jacobson SG, CIDECIYAN AV, Aleman TS, Sumaroka A, Windsor EAM, Schwartz SB, Heon E, Stone EM. Photoreceptor layer topography in children with Leber congenital amaurosis caused by RPE65 mutations. Investigative Ophthalmology & Visual Science, 49:4573-4577, 2008. [PubMed]

94. Jacobson SG, CIDECIYAN AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP, Williams DS. Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Human Molecular Genetics, 17:2405-2415, 2008. [PubMed]

93. Aleman TS, CIDECIYAN AV, Sumaroka A, Windsor EAM, Herrera W, White DA, Kaushal S, Naidu A, Roman AJ, Schwartz SB, Stone EM, Jacobson SG. Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations. Investigative Ophthalmology & Visual Science, 49:1580-1590, 2008. [PubMed]

91. Herrera W, Aleman TS, CIDECIYAN AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EAM, Schwartz SB, Stone EM, Liu X-Z, Kimberling WJ, Jacobson SG. Retinal disease in Usher syndrome III caused by mutations in the Clarin-1 gene. Investigative Ophthalmology & Visual Science, 49:2651-2660, 2008.[PubMed]

90. Aleman TS, CIDECIYAN AV, Sumaroka A, Schwartz SB, Roman AJ, Windsor EAM, Steinberg JD, Branham K, Othman M, Swaroop A, Jacobson SG. Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations. Investigative Ophthalmology & Visual Science, 48:4759-4765, 2007. [PubMed]

88. Jacobson SG, Aleman TS, CIDECIYAN AV, Heon E, Golczak M, Beltran WA, Sumaroka A, Schwartz SB, Windsor EAM, Wilson JM, Aguirre GD, Stone EM, Palczewski K. Human cone photoreceptor dependence on RPE65 isomerase. Proceedings of the National Academy of Sciences USA, 104:15123-15128, 2007. [PubMed] [PDF]

86. Aguirre GK, Komáromy AM, CIDECIYAN AV, Brainard DH, Alemán TS, Roman AJ, Avants BB, Gee JC, Korczykowski M, Hauswirth WW, Acland GM, Aguirre GD, Jacobson SG. Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation. PLoS Medicine, 4:e230, 2007. [PubMed] [PDF]

85. CIDECIYAN AV, Aleman TS, Jacobson SG, Khanna H, Sumaroka A, Aguirre GK, Schwartz SB, Windsor EAM, He S, Chang B, Stone EM, Swaroop A. Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. Human Mutation, 28:1074-1083, 2007. [PubMed]

84. Jacobson SG, Sumaroka A, Aleman TS, CIDECIYAN AV, Danciger M, Farber DB. Evidence for retinal remodeling in retinitis pigmentosa caused by PDE6B mutation. British Journal of Ophthalmology 91:699-701, 2007. [PubMed]

83. Jacobson SG, CIDECIYAN AV, Aleman TS, Sumaroka A, Schwartz SB, Roman AJ, Stone EM. Leber congenital amaurosis caused by RPGRIP1 mutation shows treatment potential. Ophthalmology 114:895-898, 2007. [PubMed]

82. 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 24:1457-1467, 2007. [PubMed]

81. 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 48:1319-1329, 2007. [PubMed]

80. Jacobson SG, CIDECIYAN AV, Aleman TS, Sumaroka A, Schwartz SB, Windsor EAM, Roman AJ, Heon E, Stone EM, Thompson DA. RDH12 and RPE65, visual cycle genes causing Leber congenital amaurosis, do not share disease expression. Investigative Ophthalmology & Visual Science 48:332-338, 2007. [PubMed]

78. Azari AA, Aleman TS, CIDECIYAN AV, Schwartz SB, Windsor EAM, Sumaroka A, Cheung AY, Steinberg JD, Roman AJ, Stone EM, Sheffield VC, Jacobson SG. Retinal disease expression in Bardet-Biedl Syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Investigative Ophthalmology & Visual Science 47: 5004-5010, 2006. [PubMed]

75. Jacobson SG, CIDECIYAN AV, Sumaroka A, Aleman TS, Schwartz SB, Windsor EAM, Roman AJ, Stone EM, MacDonald IM. Remodeling of the human retina in choroideremia - Rab Escort Protein 1 (REP-1) mutations. Investigative Ophthalmology & Visual Science 47:4113-4120, 2006. [PubMed]

69. Jacobson SG, Aleman TS, CIDECIYAN AV, Sumaroka A, Schwartz SB, Windsor EAM, Traboulsi EI, Heon E, Pittler SJ, Milam AH, Maguire AM, Palczewski K, Stone EM, Bennett J. Identifying photoreceptors in blind eyes due to RPE65 mutations: Prerequisite for human gene therapy success. Proceedings of the National Academy of Sciences USA 102:6177-6182, 2005. [PubMed] [PDF]

66. Schwartz SB, Aleman TS, CIDECIYAN AV, Windsor EAM, Sumaroka A, Roman AJ, Rane T, Smilko EE, Bennett J, Stone EM, Kimberling WJ, Liu X-Z, Jacobson SG. Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Investigative Ophthalmology & Visual Science 46:734–743, 2005. [PubMed]

63. Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, CIDECIYAN AV, Stone EM, Jacobson SG, and Swaroop A. Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. Human Mutation 24:439, 2004. [PubMed]

62. Jacobson SG, Sumaroka A, Aleman TS, CIDECIYAN AV, Schwartz SB, Roman AJ, McInnes RR, Sheffield VC, Stone EM, Swaroop A, Wright AF. Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Human Molecular Genetics 13:1893-1902, 2004. [PubMed]

60. 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. [PubMed]

57. Schwartz SB, Aleman TS, CIDECIYAN AV, Swaroop A, Jacobson SG, Stone EM. De novo mutation, Arg677ter, in the RP1 gene associated with retinitis pigmentosa. Investigative Ophthalmology & Visual Science 44:3593-3597, 2003. [PubMed]

56. Jacobson SG, CIDECIYAN AV, Aleman TS, Pianta MJ, Sumaroka A, Schwartz SB, Smilko EE, Milam AH, Sheffield VC, Stone EM. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Human Molecular Genetics, 12:1073–1078, 2003. [PubMed]

55. Milam AH, Barakat MR, Gupta N, Rose L, Aleman TS, Pianta MJ, CIDECIYAN AV, Sheffield VC, Stone EM, Jacobson SG. Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. Ophthalmology 110:549-558, 2003. [PubMed]

53. Pianta MJ, Aleman TS, CIDECIYAN AV, Sunness JS, Li Y, Campochiaro BA, Campochiaro PA, Zack DJ, Stone EM, Jacobson SG. In vivo micropathology of Best macular dystrophy with optical coherence tomography. Experimental Eye Research 76:203-211, 2003. [PubMed]

52. Aleman TS, CIDECIYAN AV, Volpe NJ, Stevanin G, Brice A, Jacobson SG. Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. Experimental Eye Research 74:737-745, 2002. [PubMed]

50. Duncan JL, Aleman TS, Gardner LM, De Castro E, Marks DA, Emmons JM, Bieber ML, Steinberg JD, Bennett J, Stone EM, Macdonald IM, CIDECIYAN AV, Maguire MG, Jacobson SG. Macular pigment and lutein supplementation in choroideremia. Experimental Eye Research 74:371-381, 2002. [PubMed]

49. Kijas JW, CIDECIYAN AV, Aleman TS, Pianta MJ, Pearce-Kelling SE, Miller BJ, Jacobson SG, Aguirre GD, 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. [PubMed] [PDF]

44. Aleman TS, Duncan JL, Bieber ML, de Castro E, Marks DA, Gardner LM, Steinberg JD, CIDECIYAN AV, Maguire MG, Jacobson SG. Macular pigment and lutein supplementation in retinitis pigmentosa and usher syndrome. Investigative Ophthalmology & Visual Science 42:1873-1881, 2001. [PubMed]

37. van Hooser JP, Aleman TS, He Y-G, CIDECIYAN AV, Kuska V, Pittler SJ, Stone EM, Jacobson SG, Palczewski K. Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proceedings of the National Academy of Sciences USA 97:8623-8628, 2000. [PubMed] [PDF]

36. Jacobson SG, CIDECIYAN AV, Iannaccone A, Weleber RG, Fishman GA, Maguire AM, Affatigato LM, Bennett J, Pierce EA, Danciger M, Farber DB, Stone EM. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. Investigative Ophthalmology & Visual Science 41:1898-1908, 2000. [PubMed]

34. Haider NB, Jacobson SG, CIDECIYAN AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC. Mutation of a nuclear receptor gene (NR2E3) causes enhanced S cone syndrome, a disorder of retinal cell fate. Nature Genetics 24:127-131, 2000. [PubMed] [News & Views]

27. Jacobson SG, CIDECIYAN AV, Huang Y, Hanna DB, Freund CL, Affatigato L, Carr RE, Zack DJ, Stone EM, McInnes RR. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Investigative Ophthalmology & Visual Science, 39:2417-2426, 1998. [PubMed]

21. Jacobson SG, Buraczynska M, Milam AH, Chen C, Jarvalainen M, Fujita R, Wu W, Huang Y, CIDECIYAN AV, Swaroop A. Disease expression in x-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. Investigative Ophthalmology & Visual Science, 38:1983-1997, 1997. [PubMed]


Last updated March 7, 2021