Below are the most recent publications written about "Retinal Dystrophies" by people in Profiles.
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Heath Jeffery RC, Thompson JA, Lo J, Chelva ES, Armstrong S, Pulido JS, Procopio R, Vincent AL, Bianco L, Battaglia Parodi M, Ziccardi L, Antonelli G, Barbano L, Marques JP, Geada S, Carvalho AL, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Borooah S, Ayton LN, Britten-Jones AC, Edwards TL, Ruddle JB, Sharma A, Porter RG, Lamey TM, McLaren TL, McLenachan S, Roshandel D, Chen FK. Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients. Invest Ophthalmol Vis Sci. 2024 05 01; 65(5):22.
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Munir A, Afsar S, Rehman AU. A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023. BMC Ophthalmol. 2024 Feb 05; 24(1):55.
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Bello NR, Pisuchpen P, de Guimar?es TAC, Capasso JE, Levin AV. TWO CASES OF CRB1-RELATED RETINAL DYSTROPHY ASSOCIATED WITH RETINAL MASSES. Retin Cases Brief Rep. 2023 Nov 01; 17(6):714-718.
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Jimenez HJ, Procopio RA, Thuma TBT, Marra MH, Izquierdo N, Klufas MA, Nagiel A, Pennesi ME, Pulido JS. Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series. Int J Mol Sci. 2022 Nov 01; 23(21).
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Griffith J, Sioufi K, Wilbanks L, Magrath GN, Say EAT, Lyons MJ, Wilkes M, Pai GS, Peterseim MMW. Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review. Genes (Basel). 2022 08 20; 13(8).
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Rehman AU, Sepahi N, Bedoni N, Ravesh Z, Salmaninejad A, Cancellieri F, Peter VG, Quinodoz M, Mojarrad M, Pasdar A, Asad AG, Ghalamkari S, Piran M, Piran M, Superti-Furga A, Rivolta C. Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies. Sci Rep. 2021 09 29; 11(1):19332.
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Guimaraes TAC, Capasso JE, Levin AV. Paradoxical response to carbonic anhydrase inhibitors in patients with intraretinal cystoid spaces. Ophthalmic Genet. 2019 06; 40(3):213-218.
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Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, Cross D, Marshall KA, Walshire J, Kehoe TL, Reichert H, Davis M, Raffini L, George LA, Hudson FP, Dingfield L, Zhu X, Haller JA, Sohn EH, Mahajan VB, Pfeifer W, Weckmann M, Johnson C, Gewaily D, Drack A, Stone E, Wachtel K, Simonelli F, Leroy BP, Wright JF, High KA, Maguire AM. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. Lancet. 2017 Aug 26; 390(10097):849-860.
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Lingao MD, Ganesh A, Karthikeyan AS, Al Zuhaibi S, Al-Hosni A, Al Khayat A, Capasso J, Trumler AA, Stroh E, Al Shekaili H, Cater JR, Levin AV. Macular cystoid spaces in patients with retinal dystrophy. Ophthalmic Genet. 2016 12; 37(4):377-383.
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Cordovez JA, Traboulsi EI, Capasso JE, Sadagopan KA, Ganesh A, Rychwalski PJ, Neely KA, Brodie SE, Levin AV. Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene. Ophthalmic Genet. 2015; 36(3):257-64.