Research Technique: Near-infrared excited Reduced-illuminance Autofluorescence Imaging

SUMMARY

NIR-RAFI summary


32 PUBLICATIONS DESCRIBING OR USING NIR-RAFI

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]

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]

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] 

191. Calzetti G, Levy RA,  CIDECIYAN AV, Garafalo AV, Roman AJ, Sumaroka A, Charng J, Heon E, Jacobson SG. Efficacy outcome measures for clinical trials of USH2A caused by the common c.2299delG mutation. American Journal of Ophthalmology, 193:114–129, 2018. [PubMed]

188. Stunkel ML, Brodie SE, CIDECIYAN AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV. Expanded retinal disease spectrum associated with autosomal recessive mutations in GUCY2D. American Journal of Ophthalmology, 190:58–68, 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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

105. Gibbs D, CIDECIYAN AV, Jacobson SG, Williams DS. Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specificautofluorescence. 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]

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]

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]

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]


Last updated March 7, 2021