BEST1-associated retinopathies

Summary

BEST1-associated inherited retinal degenerations

5 Publications On BEST1

234. CIDECIYAN AV, Jacobson SG, Sumaroka A, Swider M, Krishnan AK, Sheplock R, Garafalo AV, Guziewicz KE, Aguirre GD, Beltran WA, Matsui Y, Kondo M, Heon E. Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations. Vision Research, 203:108157, 2023. [PubMed] [DOI]

233. CIDECIYAN AV, Jacobson SG, Swider M, Sumaroka A, Sheplock R, Krishnan AK, Garafalo AV, Guziewicz KE, Aguirre GD, Beltran WA, Heon E. Photoreceptor function and structure in autosomal dominant vitelliform macular dystrophy caused by BEST1 mutations. Investigative Ophthalmology & Visual Science, 63:12, 2022. [PubMed] [DOI]

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]

137. 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:e90390, 2014. [PubMed] [Penn News] [PDF]

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]

Last updated March 5, 2018