Other inherited retinal degenerations


CERKL, CHM, DHDDS, EYS, GCAP1, MAK, PDE6B, RDS, RP1, SPATA7 and other inherited retinal degenerations


21 Publications On Other Inherited Retinal Degenerations

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]

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]

173. Veleri S, Nellissery J, Mishra B, Manjunath SH, Brooks MJ, Dong L, Nagashima K, Qian H, Gao C, Sergeev YV, Huang X-F, Qu J, Lu F, CIDECIYAN AV, Li T, Jin Z-B, Fariss RN, Ratnapriya R, Jacobson SG, Swaroop A. REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival. Human Molecular Genetics 26: 2218-2230, 2017. [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]

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]

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]

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]

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]

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]

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]

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]

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]

65. Roman AJ, Schwartz SB, Aleman TS, CIDECIYAN AV, Chico JD, Windsor EAM, Gardner LM, Ying G-Y, Smilko EE, Maguire MG, Jacobson SG. Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures. Experimental Eye Research 80: 259–272, 2005. [PubMed]

64. Wright AF, Jacobson SG, CIDECIYAN AV, Roman AJ, Shu X, Vlachantoni D, McInnes RR, Riemersma RA. Life span and mitochondrial control of neurodegeneration. Nature Genetics 36:1153-1158, 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]

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]

Last updated January 28, 2021