Publications

Chang L, Poulter JA, Webster AR, Arno G, Mukherjee R, Lotery A, Hardcastle AJ, Watson CM, Inglehearn CF. RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa. Eur J Hum Genet. 2025 Oct 23. doi: 10.1038/s41431-025-01964-0. Online ahead of print. PMID: 41131384.

Quinodoz, M., …Mukherjee, R., ….Rivolta, C., Roosing, S. De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169.


MacLaren, RE., Duncan, JL., Dominik Fischer, M., Lam, BL., Meunier, I., Pennesi, ME., Sankila, EMK., Gow, JA., Li, J., Tsang, SF., XOLARIS Study Group (…Mukherjee, R, …). XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa. Ophthalmol Sci. 2024 Aug 13;5(1):100595. doi: 10.1016/j.xops.2024.100595.eCollection 2025 Jan-Feb.


Lopez Soriano, V., Rey, AD., Mukherjee, R., Genomics England Research Consortium; Coppieters, F., Bauwens, M., Willaert, A., De Baere, E. Author Correction: Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci. Nat Commun. 2024 May 10;15(1):3935. doi: 10.1038/s41467-024-48497-6.


Airody A, Baseler HA, Seymour J, Allgar V, Mukherjee R, Downey L, Dhar-Munshi S, Mahmood S, Balaskas K, Empeslidis T, Hanson RLW, Dorey T, Szczerbicki T, Sivaprasad S, Gale RP. Treatment of age-related macular degeneration with aflibercept using a treat, extend and fixed protocol; A 4-year study of treatment outcomes, durability, safety and quality of life (An extension to the MATE randomised controlled trial). Acta Ophthalmol. 2024 May;102(3):e328-e338. doi: 10.1111/aos.15774. Epub 2023 Sep 30.

Lopez Soriano V, Dueñas Rey A, Mukherjee R; Genomics England Research Consortium; Coppieters F, Bauwens M, Willaert A, De Baere E. Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci. Nat Commun. 2024 Feb 21;15(1):1600. doi: 10.1038/s41467-024-45381-1.


Airody A., Baseler, H.A., Seymour, J., Allgar V., Mukherjee R., Downey L., Dhar-Munshi S., Mahmood S., Balaskas K., Empeslidis T., Hanson R.L.W., Dorey T., Szczerbicki T., Sivaprasad S., Gale R.P. The MATE trial: a multicentre, mixed-methodology, pilot, randomised controlled trial in neovascular age-related macular degeneration. Pilot Feasibility Stud 9, 63 (2023). https://doi.org/10.1186/s40814-023-01288-0


McClinton B, Crinnion LA, McKibbin M, Mukherjee R, Ali M, Inglehearn C, Watson CM, Toomes C. Characterization of Deletions using Oxford Nanopore Long-Read Sequencing. Investigative Ophthalmology & Visual Science 63 (7), 1597–A0386-1597–A0386.


Scanlon PS, Norridge CFE, Mukherjee R, Lotery AJ, Peto T, Chhabra R, Bailey C, Eleftheriadis H, Ghanchi F, Jones C. Assessing the impact of COVID-19 on visual acuity for diabetic macular edema patients treated with aflibercept in the UK. Investigative Ophthalmology & Visual Science 63 (7), 3776–F0197-3776–F0197

Thomas DS, Warwick A, Olvera-Barrios A, Egan C, Schwartz R, Patra S, Eleftheriadis H, Khawaja A, Lotery A, Muller PL, Hamilton R, Preston E, Taylor P, Tufail A, UK EMR Users Group (…Mukherjee, R, …). Estimating excess visual loss from neovascular age-related macular degeneration in the UK during the COVID-19 pandemic: a retrospective clinical audit and simulation model. BMJ Open 2022 Apr 15;12(4):e057269. doi: 10.1136/bmjopen-2021-057269.


Hahn LC, Georgiou M, Almushattat H, van Schooneveld MJ, de Carvalho ER, Wesseling NL, Ten Brink JB, Florijn RJ, Lissenberg-Witte BI, Strubbe I, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Mukherjee R, McKibbin M, Meester-Smoor MA, Thiadens AAHJ, Al-Khuzaei S, Akyol E, Lotery AJ, van Genderen MM, Norel JO, Ingeborgh van den Born L, Hoyng CB, Klaver CCW, Downes SM, Bergen AA, Leroy BP, Michaelides M, Boon CJF. The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene. Ophthalmol Retina. 2022 Mar 18:S2468-6530(22)00107-5. doi: 10.1016/j.oret.2022.03.008.


Heier JS, Khanani AM, Ruiz CQ, Basu K, Ferrone PJ, Brittain C, Figueroa MS, Lin H, Holz FG, Patel V, Lai PYY, Silverman D, Regillo C, Swaminathan B, Viola F, Cheung CMG, Wong TY, TENAYA and LUCERNE investigators (…, Mukherjee R, …). Efficacy, durability, and safety of intravitreal faricimab up to every 16 weeks for neovascular age-related macular degeneration (TENAYA and LUCERNE): two randomised, double-masked, phase 3, non-inferiority trials. Lancet 2022 Jan 21;S0140-6736(22)00010-1.


Talks SJ, Stratton I, Peto T, Lotery A, Chakravarthy U, Eleftheriadis H, Izadi S, Dhingra N, Scanlon P; UK Aflibercept Users’ Group (…, Mukherjee, R, …). Aflibercept in clinical practice: visual acuity, injection numbers and adherence to treatment for diabetic macular oedema in 21 UK hospitals over 3 years. Eye (Lond). 2021 Jul 9.


Downey L, Acharya N, Devonport H, Gale R, Habib M, Manjunath V, Mukherjee R, Severn P. Treatment choices for diabetic macular oedema: a guideline for when to consider an intravitreal corticosteroid, including adaptations for the COVID-19 era. BMJ Open Ophthalmol. 2021 Apr 27;6(1):e000696.


Schwartz R, Warwick A, Olvera-Barrios A, Pikoula M, Lee AY, Denaxas S, Taylor P, Egan C, Chakravarthy U, Lip PL, Tufail A; UK EMR Users Group (… Mukherjee R, …). Evolving treatment patterns and outcomes of neovascular age-related macular degeneration over a decade. Ophthalmol Retina. 2021 Apr 15:S2468-6530(21)00118-4.


Gale R, Pikoula M, Lee AY, Denaxas S, Egan C, Tufail A, Taylor P; UK EMR Users Group (…, Mukherjee, R, …). Real world evidence on 5661 patients treated for macular oedema secondary to branch retinal vein occlusion with intravitreal anti-vascular endothelial growth factor, intravitreal dexamethasone or macular laser. Br J Ophthalmol. 2021 Apr;105(4):549-554.


Gale R, Gill C, Pikoula M, Lee AY, Hanson RLW, Denaxas S, Egan C, Tufail A, Taylor P; UK EMR Database Users Group (…Mukherjee R, …). Multicentre study of 4626 patients assesses the effectiveness, safety and burden of two categories of treatments for central retinal vein occlusion: intravitreal anti-vascular endothelial growth factor injections and intravitreal Ozurdex injections. Br J Ophthalmol. 2020 Sep 22: bjophthalmol-2020-317306.


Lotery A, Sivaprasad S, O'Connell A, Harris RA, Culliford L, Ellis L, Cree A, Madhusudhan S, Behar-Cohen F, Chakravarthy U, Peto T, Rogers CA, Reeves BC; VICI trial investigators (…, Mukherjee, R, …). Eplerenone for chronic central serous chorioretinopathy in patients with active, previously untreated disease for more than 4 months (VICI): a randomised, double-blind, placebo-controlled trial. Lancet. 2020 Jan 25;395(10220):294-303.


Denniston AK, Lee AY, Lee CS, Crabb DP, Bailey C, Lip PL, Taylor P, Pikoula M, Cook E, Akerele T, Antcliff R, Brand C, Chakravarthy U, Chavan R, Dhingra N, Downey L, Eleftheriadis H, Ghanchi F, Khan R, Kumar V, Lobo A, Lotery A, Menon G, Mukherjee R, Palmer H, Patra S, Paul B, Sim DA, Talks JS, Wilkinson E, Tufail A, Egan CA. United Kingdom Diabetic Retinopathy Electronic Medical Record (UK DR EMR) Users Group: report 4, real-world data on the impact of deprivation on the presentation of diabetic eye disease at hospital services. Br J Ophthalmol. 2019 Jun;103(6):837-843.


Haldar S, Mukherjee R, Elston J. Microcystic macular edema in a case of tobacco-alcohol optic neuropathy. Can J Ophthalmol. 2017 Feb;52(1):e19-e22.


Hull S, Mukherjee R, Holder GE, Moore AT, Webster AR. The clinical features of retinal disease due to a dominant mutation in RPE65. Mol Vis. 2016 Jun 10;22:626-35.


Hull S, Holder GE, Robson AG, Mukherjee R, Michaelides M, Webster AR, Moore AT. Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. Br J Ophthalmol. 2016 Nov; 100(11):1499-1505.


Mukherjee R, Kiire CA, Ruparelia N, Keeling D, Prendergast B, Norris JH. Managing antiplatelet and anticoagulant drugs in patients undergoing elective ophthalmic surgery. Authors' response. Br J Ophthalmol. 2014 Aug;98(8):1136-7.


Kiire CA, Mukherjee R, Ruparelia N, Keeling D, Prendergast B, Norris JH. Managing antiplatelet and anticoagulant drugs in patients undergoing elective ophthalmic surgery. Br J Ophthalmol. 2014 Oct;98(10):1320-4.


Mukherjee R, Robson AG, Holder GE, Stockman A, Egan CA, Moore AT, Webster AR. A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene. Eye (Lond). 2014 Apr;28(4):481-7


Fujinami K, Lois N, Mukherjee R, McBain VA, Tsunoda K, Tsubota K, Stone EM, Fitzke FW, Bunce C, Moore AT, Webster AR, Michaelides M. A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations. Invest Ophthalmol Vis Sci. 2013 Dec 17;54(13):8181-90.