Electrophysiology - Clinical

Summary

Clinical electrophysiology

Publications using standard ERG methods [198,157,153,135,128,127,123,121,120,119,117,116,114,113,107,101,99,96,91,90,78,66 & others]

Publications using single-flash ERG photoresponses [60,52,39,36,34,32,30,27,26,24,21,19,16,15,14,8,5,4]

Publications using paired-flash ERG photoresponses [54,23,13]

55 Publications Using Clinical Electrophysiology

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]

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]

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]

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]

127. Huang WC, Wright AF, Roman AJ, CIDECIYAN AV, Manson FD, Gewaily DY, Schwartz SB, Sadigh S, Limberis MP, Bell P, Wilson JM, Swaroop A, Jacobson SG. RPGR-associated retinal degeneration in human X-linked RP and a murine model. Investigative Ophthalmology & Visual Science 53:5594–5608, 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]

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]

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]

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]

99. CIDECIYAN AV, Swider M, Aleman TS, Tsybovsky Y, Schwartz SB, Windsor EAM, 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. [PubMed] [Reprint] [Free Text in PubMed Central]

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]

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]

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]

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]

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]

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]

54. 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. [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]

47. Milam AH, Rose L, CIDECIYAN AV, Barakat MR, Tang W-X, Gupta N, Aleman TS, Wright AF, Stone EM, Sheffield VC, Jacobson SG. The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proceedings of the National Academy of Sciences USA 99:473-478, 2002. [PubMed] [PDF]

41. Poehner WJ, Fossarello M, Rapoport AL, Aleman TS, CIDECIYAN AV, Jacobson SG, Wright AF, Danciger M, Farber DB. A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy. Molecular Vision 6:192-198, 2000. [PubMed] [PDF]

40. Milam AH, Curcio CA, CIDECIYAN AV, Saxena S, John SK, Kruth HS, Malek G, Heckenlively JR, Weleber RG, Jacobson SG. Dominant late-onset retinal degeneration with regional variation of sub-RPE deposits, retinal function and photoreceptor degeneration. Ophthalmology 107:2256-2266, 2000. [PubMed]

39. 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. [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]

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

30. Banin E, CIDECIYAN AV, Aleman TS, Petters RM, Wong F, Milam AH, Jacobson SG. Retinal rod photoreceptor-specific gene mutation perturbs cone pathway development. Neuron 23:549-557, 1999. [PubMed]

28. Lewis CA, Batlle IR, Batlle KGR, Banerjee P, CIDECIYAN AV, Huang J, Aleman TS, Huang Y, Ott J, Gilliam TC, Knowles JA, Jacobson SG. TULP1 (tubby-like protein 1) homozygous splice-site mutation causes early-onset severe retinal degeneration. Investigative Ophthalmology & Visual Science, 40:2106-2114, 1999. [PubMed]

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]

26. 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. [PubMed] [PDF]

24. Gieser L, Fujita R, Goring HHH, Ott J, Hoffman DR, CIDECIYAN AV, Birch DG, Jacobson SG, Swaroop A. A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. Americal Journal of Human Genetics, 63:1439-1447, 1998. [PubMed]

23. 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. [PubMed] [PDF]

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]

19. Jacobson SG, CIDECIYAN AV, Maguire AM, Bennett J, Sheffield VC, Stone EM. Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene. Experimental Eye Research, 63:603-608, 1996. [PubMed]

18. Greenstein VC, Zaidi Q, Hood DC, De Bonet JS, Spehar B, CIDECIYAN AV, Jacobson SG. The enhanced S cone syndrome: An analysis of receptoral and post-receptoral changes. Vision Research, 36:3711-3722, 1996. [PubMed]

17. Kuntz CA, Jacobson SG, CIDECIYAN AV, Li Z-Y, Stone EM, Possin D, Milam AH. Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration. Investigative Ophthalmology & Visual Science, 37:1772-1782, 1996. [PubMed]

16. 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. [PubMed]

15. Jacobson SG, CIDECIYAN AV, Kemp CM, Sheffield VC, Stone EM. Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene. Investigative Ophthalmology & Visual Science, 37:1662-1674, 1996. [PubMed]

14. Milam AH, Li Z-Y, CIDECIYAN AV, Jacobson SG. Clinicopathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa. Investigative Ophthalmology & Visual Science, 37:753-765, 1996. [PubMed]

13. Hood DC, CIDECIYAN AV, Halevy DA and Jacobson SG. Sites of disease action in a retinopathy with supernormal and delayed rod electroretinogram b-waves. Vision Research 36:889-901, 1996. [PubMed]

11. Jacobson SG, Morales DS, Sun XK, Feuer WJ, CIDECIYAN AV, Gass JDM, Milam AH. Pattern of retinal dysfunction in acute zonal occult outer retinopathy. Ophthalmology 102:1187-1198, 1995. [PubMed]

10. Sakuma H, Inana G, Murakami A, Yajima T, Weleber RG, Murphey WH, Gass JDM, Hotta Y, Hayakawa M, Fujiki K, Gao YQ, Danciger M, Farber D, CIDECIYAN AV, Jacobson SG. A heterozygous null mutation in ROM-1 without a mutation in rds/peripherin in a family with retinitis pigmentosa. Genomics 27:384-386, 1995. [PubMed]

8. Hood DC, CIDECIYAN AV, Roman AJ and Jacobson SG. Enhanced S cone syndrome: Evidence for an abnormally large number of S cones. Vision Research 35:1473-1481, 1995. [PubMed]

6. Kemp CM, Jacobson SG, CIDECIYAN AV, Kimura AE, Sheffield VC and Stone EM. RDS gene mutations causing either macular degeneration or retinitis pigmentosa lead to similar abnormalities of dark adaptation. Investigative Ophthalmology & Visual Science, 35:3154-3162, 1994. [PubMed]

5. Jacobson SG, Kemp CM, CIDECIYAN AV, Macke JP, Sung C-H and Nathans J. Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa. Investigative Ophthalmology & Visual Science, 35:2521-2534, 1994. [PubMed]

4. CIDECIYAN AV and Jacobson SG. Negative electroretinograms in retinitis pigmentosa. Investigative Ophthalmology & Visual Science, 34:3253-3263, 1993. [PubMed]

2. Jacobson SG, Roman AJ, CIDECIYAN AV, Robey MG, Iwata T and Inana G. X-linked retinitis pigmentosa: functional phenotype of an RP2 genotype. Investigative Ophthalmology & Visual Science, 33:3481-3492, 1992. [PubMed]

Last updated January 15, 2020