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Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing their Potential for Retinal Gene Therapy.

Nanda A, Salvetti AP, Clouston P, Downes SM, MacLaren RE.

Genes (Basel). 2018 Dec 18;9(12). pii: E643. doi: 10.3390/genes9120643.



van Dijk EHC, Fauser S, Breukink MB, Blanco-Garavito R, Keunen JEE, Groenewoud JMM, Peters PJH, Dijkman G, Souied EH, MacLaren RE, Querques G, Downes SM, Hoyng CB, Boon CJF.

Ophthalmology. 2019 Jan;126(1):e11. doi: 10.1016/j.ophtha.2018.06.038. Epub 2018 Nov 22. No abstract available.


The positive impact of e-mail referrals on access to specialist macula services.

King C, Logan J, Lim N, Andrews C, Downes SM.

Eye (Lond). 2018 Oct 19. doi: 10.1038/s41433-018-0235-8. [Epub ahead of print] No abstract available.


Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia.

Xue K, Jolly JK, Barnard AR, Rudenko A, Salvetti AP, Patrício MI, Edwards TL, Groppe M, Orlans HO, Tolmachova T, Black GC, Webster AR, Lotery AJ, Holder GE, Downes SM, Seabra MC, MacLaren RE.

Nat Med. 2018 Oct;24(10):1507-1512. doi: 10.1038/s41591-018-0185-5. Epub 2018 Oct 8.


Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.

Fiorentino A, Yu J, Arno G, Pontikos N, Halford S, Broadgate S, Michaelides M, Carss KJ, Raymond FL, Cheetham ME, Webster AR, Downes SM, Hardcastle AJ; NIHR-BioResource Rare Diseases Consortium; U.K. Inherited Retinal Dystrophy Consortium.

Mol Vis. 2018 Aug 31;24:603-612. eCollection 2018.


Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.

Charbel Issa P, Reuter P, Kühlewein L, Birtel J, Gliem M, Tropitzsch A, Whitcroft KL, Bolz HJ, Ishihara K, MacLaren RE, Downes SM, Oishi A, Zrenner E, Kohl S, Hummel T.

JAMA Ophthalmol. 2018 Jul 1;136(7):761-769. doi: 10.1001/jamaophthalmol.2018.1621.


Half-Dose Photodynamic Therapy versus High-Density Subthreshold Micropulse Laser Treatment in Patients with Chronic Central Serous Chorioretinopathy: The PLACE Trial.

van Dijk EHC, Fauser S, Breukink MB, Blanco-Garavito R, Groenewoud JMM, Keunen JEE, Peters PJH, Dijkman G, Souied EH, MacLaren RE, Querques G, Downes SM, Hoyng CB, Boon CJF.

Ophthalmology. 2018 Oct;125(10):1547-1555. doi: 10.1016/j.ophtha.2018.04.021. Epub 2018 Jun 14.


The southern ocean meridional overturning in the sea-ice sector is driven by freshwater fluxes.

Pellichero V, Sallée JB, Chapman CC, Downes SM.

Nat Commun. 2018 May 3;9(1):1789. doi: 10.1038/s41467-018-04101-2.


Transcorneal electrical stimulation for the treatment of retinitis pigmentosa: results from the TESOLAUK trial.

Wagner SK, Jolly JK, Pefkianaki M, Gekeler F, Webster AR, Downes SM, Maclaren RE.

BMJ Open Ophthalmol. 2017 Dec 14;2(1):e000096. doi: 10.1136/bmjophth-2017-000096. eCollection 2017.


A novel record for patients with neovascular age-related macular degeneration: providing information and a personal treatment record.

Shah M, Haque AM, Downes SM.

Eye (Lond). 2018 Apr;32(4):834-835. doi: 10.1038/eye.2017.246. Epub 2017 Nov 17. No abstract available.


High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.

Bellingrath JS, Ochakovski GA, Seitz IP, Kohl S, Zrenner E, Hanig N, Prokisch H, Weber BH, Downes SM, Ramsden S, MacLaren RE, Fischer MD.

Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4457-4466. doi: 10.1167/iovs.17-22077.


Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant.

Gill JS, Hardy SA, Blakely EL, Hopton S, Nemeth AH, Fratter C, Poulton J, Taylor RW, Downes SM.

Br J Ophthalmol. 2017 Sep;101(9):1298-1302. doi: 10.1136/bjophthalmol-2017-310370. Epub 2017 Jul 20.


Unravelling the genetics of inherited retinal dystrophies: Past, present and future.

Broadgate S, Yu J, Downes SM, Halford S.

Prog Retin Eye Res. 2017 Jul;59:53-96. doi: 10.1016/j.preteyeres.2017.03.003. Epub 2017 Mar 29. Review.


Fundus autofluorescence imaging: systematic review of test accuracy for the diagnosis and monitoring of retinal conditions.

Frampton GK, Kalita N, Payne L, Colquitt JL, Loveman E, Downes SM, Lotery AJ.

Eye (Lond). 2017 Jul;31(7):995-1007. doi: 10.1038/eye.2017.19. Epub 2017 Mar 10. Review.


Hydroxychloroquine retinopathy.

Yusuf IH, Sharma S, Luqmani R, Downes SM.

Eye (Lond). 2017 Jun;31(6):828-845. doi: 10.1038/eye.2016.298. Epub 2017 Mar 10. Review.


Hydroxychloroquine retinopathy: an emerging problem.

Latasiewicz M, Gourier H, Yusuf IH, Luqmani R, Sharma SM, Downes SM.

Eye (Lond). 2017 Jun;31(6):972-976. doi: 10.1038/eye.2016.297. Epub 2017 Feb 10.


Chronic central serous chorioretinopathy: long-term follow-up and vision-related quality of life.

Breukink MB, Dingemans AJ, den Hollander AI, Keunen JE, MacLaren RE, Fauser S, Querques G, Hoyng CB, Downes SM, Boon CJ.

Clin Ophthalmol. 2016 Dec 20;11:39-46. doi: 10.2147/OPTH.S115685. eCollection 2017.


Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Liao C, Ashley N, Diot A, Morten K, Phadwal K, Williams A, Fearnley I, Rosser L, Lowndes J, Fratter C, Ferguson DJ, Vay L, Quaghebeur G, Moroni I, Bianchi S, Lamperti C, Downes SM, Sitarz KS, Flannery PJ, Carver J, Dombi E, East D, Laura M, Reilly MM, Mortiboys H, Prevo R, Campanella M, Daniels MJ, Zeviani M, Yu-Wai-Man P, Simon AK, Votruba M, Poulton J.

Neurology. 2017 Jan 10;88(2):131-142. doi: 10.1212/WNL.0000000000003491. Epub 2016 Dec 14.


A Novel Method for Quantitative Serial Autofluorescence Analysis in Retinitis Pigmentosa Using Image Characteristics.

Jolly JK, Wagner SK, Moules J, Gekeler F, Webster AR, Downes SM, MacLaren RE.

Transl Vis Sci Technol. 2016 Dec 1;5(6):10. eCollection 2016 Dec.


Ocular Toxicity of Mitogen-Activated Protein Kinase Inhibitors.

Purbrick RM, Osunkunle OA, Talbot DC, Downes SM.

JAMA Oncol. 2016 Nov 17. doi: 10.1001/jamaoncol.2016.4213. [Epub ahead of print] No abstract available.


The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.

Simunovic MP, Jolly JK, Xue K, Edwards TL, Groppe M, Downes SM, MacLaren RE.

Invest Ophthalmol Vis Sci. 2016 Nov 1;57(14):6033-6039. doi: 10.1167/iovs.16-20230.


A Qualitative and Quantitative Assessment of Fundus Autofluorescence Patterns in Patients With Choroideremia.

Jolly JK, Edwards TL, Moules J, Groppe M, Downes SM, MacLaren RE.

Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4498-4503. doi: 10.1167/iovs.15-18362.


Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.

Ng YS, Hardy SA, Shrier V, Quaghebeur G, Mole DR, Daniels MJ, Downes SM, Freebody J, Fratter C, Hofer M, Nemeth AH, Poulton J, Taylor RW.

Neuromuscul Disord. 2016 Oct;26(10):702-705. doi: 10.1016/j.nmd.2016.08.009. Epub 2016 Aug 17.


Correlation of Optical Coherence Tomography and Autofluorescence in the Outer Retina and Choroid of Patients With Choroideremia.

Xue K, Oldani M, Jolly JK, Edwards TL, Groppe M, Downes SM, MacLaren RE.

Invest Ophthalmol Vis Sci. 2016 Jul 1;57(8):3674-84. doi: 10.1167/iovs.15-18364.


The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

Dombi E, Diot A, Morten K, Carver J, Lodge T, Fratter C, Ng YS, Liao C, Muir R, Blakely EL, Hargreaves I, Al-Dosary M, Sarkar G, Hickman SJ, Downes SM, Jayawant S, Yu-Wai-Man P, Taylor RW, Poulton J.

Neurology. 2016 May 17;86(20):1921-3. doi: 10.1212/WNL.0000000000002688. Epub 2016 Apr 22. No abstract available.


Visual Acuity after Retinal Gene Therapy for Choroideremia.

Edwards TL, Jolly JK, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Black GC, Webster AR, Lotery AJ, Holder GE, Xue K, Downes SM, Simunovic MP, Seabra MC, MacLaren RE.

N Engl J Med. 2016 May 19;374(20):1996-8. doi: 10.1056/NEJMc1509501. Epub 2016 Apr 27. No abstract available.


Ultraviolet or blue-filtering intraocular lenses: what is the evidence?

Downes SM.

Eye (Lond). 2016 Feb;30(2):215-21. doi: 10.1038/eye.2015.267. Epub 2016 Jan 8. Review.


Comparing half-dose photodynamic therapy with high-density subthreshold micropulse laser treatment in patients with chronic central serous chorioretinopathy (the PLACE trial): study protocol for a randomized controlled trial.

Breukink MB, Downes SM, Querques G, van Dijk EHC, den Hollander AI, Blanco-Garavito R, Keunen JEE, Souied EH, MacLaren RE, Hoyng CB, Fauser S, Boon CJF.

Trials. 2015 Sep 21;16:419. doi: 10.1186/s13063-015-0939-z.


Improving Mobility Performance in Low Vision With a Distance-Based Representation of the Visual Scene.

van Rheede JJ, Wilson IR, Qian RI, Downes SM, Kennard C, Hicks SL.

Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4802-9. doi: 10.1167/iovs.14-16311.


Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE.

Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13.


Functional Defects in Color Vision in Patients With Choroideremia.

Jolly JK, Groppe M, Birks J, Downes SM, MacLaren RE.

Am J Ophthalmol. 2015 Oct;160(4):822-31.e3. doi: 10.1016/j.ajo.2015.06.018. Epub 2015 Jun 29.


Correlation of retinal structure and function in choroideremia carriers.

Edwards TL, Groppe M, Jolly JK, Downes SM, MacLaren RE.

Ophthalmology. 2015 Jun;122(6):1274-6. doi: 10.1016/j.ophtha.2014.12.036. Epub 2015 Feb 11. No abstract available.


Utilisation of orthoptists to give intravitreal injections-a multidisciplinary approach.

Mall SP, North L, Menon G, Moorman CM, Downes SM.

Eye (Lond). 2015 Feb;29(2):290. doi: 10.1038/eye.2014.234. Epub 2014 Nov 21. No abstract available.


Cost-effectiveness of ranibizumab and bevacizumab for age-related macular degeneration: 2-year findings from the IVAN randomised trial.

Dakin HA, Wordsworth S, Rogers CA, Abangma G, Raftery J, Harding SP, Lotery AJ, Downes SM, Chakravarthy U, Reeves BC; IVAN Study Investigators.

BMJ Open. 2014 Jul 29;4(7):e005094. doi: 10.1136/bmjopen-2014-005094.


Impact of cataract surgery on sleep in patients receiving either ultraviolet-blocking or blue-filtering intraocular lens implants.

Alexander I, Cuthbertson FM, Ratnarajan G, Safa R, Mellington FE, Foster RG, Downes SM, Wulff K.

Invest Ophthalmol Vis Sci. 2014 Jun 26;55(8):4999-5004. doi: 10.1167/iovs.14-14054.


Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.

MacLaren RE, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Seymour L, Clark KR, During MJ, Cremers FP, Black GC, Lotery AJ, Downes SM, Webster AR, Seabra MC.

Lancet. 2014 Mar 29;383(9923):1129-37. doi: 10.1016/S0140-6736(13)62117-0. Epub 2014 Jan 16.


Pharmacogenetic associations with vascular endothelial growth factor inhibition in participants with neovascular age-related macular degeneration in the IVAN Study.

Lotery AJ, Gibson J, Cree AJ, Downes SM, Harding SP, Rogers CA, Reeves BC, Ennis S, Chakravarthy U; Alternative Treatments to Inhibit VEGF in Patients with Age-Related Choroidal Neovascularisation (IVAN) Study Group.

Ophthalmology. 2013 Dec;120(12):2637-2643. doi: 10.1016/j.ophtha.2013.07.046. Epub 2013 Sep 23.


Alternative treatments to inhibit VEGF in age-related choroidal neovascularisation: 2-year findings of the IVAN randomised controlled trial.

Chakravarthy U, Harding SP, Rogers CA, Downes SM, Lotery AJ, Culliford LA, Reeves BC; IVAN study investigators.

Lancet. 2013 Oct 12;382(9900):1258-67. doi: 10.1016/S0140-6736(13)61501-9. Epub 2013 Jul 19.


A depth-based head-mounted visual display to aid navigation in partially sighted individuals.

Hicks SL, Wilson I, Muhammed L, Worsfold J, Downes SM, Kennard C.

PLoS One. 2013 Jul 3;8(7):e67695. doi: 10.1371/journal.pone.0067695. Print 2013.


Understanding the expectations of patients with inherited retinal dystrophies.

Combs R, Hall G, Payne K, Lowndes J, Devery S, Downes SM, Moore AT, Ramsden S, Black GC, McAllister M.

Br J Ophthalmol. 2013 Aug;97(8):1057-61. doi: 10.1136/bjophthalmol-2012-302911. Epub 2013 Jun 5.


Understanding the impact of genetic testing for inherited retinal dystrophy.

Combs R, McAllister M, Payne K, Lowndes J, Devery S, Webster AR, Downes SM, Moore AT, Ramsden S, Black G, Hall G.

Eur J Hum Genet. 2013 Nov;21(11):1209-13. doi: 10.1038/ejhg.2013.19. Epub 2013 Feb 13.


Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.

Halford S, Holt R, Németh AH, Downes SM.

Arch Ophthalmol. 2012 Nov;130(11):1490-2. doi: 10.1001/archophthalmol.2012.708. No abstract available.


Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.

Downes SM, Packham E, Cranston T, Clouston P, Seller A, Németh AH.

Arch Ophthalmol. 2012 Nov;130(11):1486-90. doi: 10.1001/archophthalmol.2012.1697. No abstract available.


Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.

Shanks ME, Downes SM, Copley RR, Lise S, Broxholme J, Hudspith KA, Kwasniewska A, Davies WI, Hankins MW, Packham ER, Clouston P, Seller A, Wilkie AO, Taylor JC, Ragoussis J, Németh AH.

Eur J Hum Genet. 2013 Mar;21(3):274-80. doi: 10.1038/ejhg.2012.172. Epub 2012 Sep 12. Erratum in: Eur J Hum Genet. 2013 Sep;21(9):1031.


'Persistant bilateral relative central scotomas induced by taking an excessive dose of sildenafil'.

Izadi S, De Silva SR, Sculfor D, Benjamin L, Downes SM.

Acta Ophthalmol. 2012 Sep;90(6):e496-8. doi: 10.1111/j.1755-3768.2011.02362.x. No abstract available.


Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.

Davies WI, Downes SM, Fu JK, Shanks ME, Copley RR, Lise S, Ramsden SC, Black GC, Gibson K, Foster RG, Hankins MW, Németh AH.

Genet Med. 2012 Nov;14(11):891-9. doi: 10.1038/gim.2012.73. Epub 2012 Jul 12.


Ranibizumab versus bevacizumab to treat neovascular age-related macular degeneration: one-year findings from the IVAN randomized trial.

IVAN Study Investigators, Chakravarthy U, Harding SP, Rogers CA, Downes SM, Lotery AJ, Wordsworth S, Reeves BC.

Ophthalmology. 2012 Jul;119(7):1399-411. doi: 10.1016/j.ophtha.2012.04.015. Epub 2012 May 11. Erratum in: Ophthalmology. 2012 Aug;119(8):1508. Ophthalmology. 2013 Sep;120(9):1719.


Evolutionary perspectives on human aggression: introduction to the special issue.

Cashdan E, Downes SM.

Hum Nat. 2012 Mar;23(1):1-4. doi: 10.1007/s12110-012-9133-0.


Colour photographs for screening in neovascular age-related macular degeneration: are they necessary?

Hibbs SP, Smith A, Chow LP, Downes SM.

Eye (Lond). 2011 Jul;25(7):918-21. doi: 10.1038/eye.2011.90. Epub 2011 May 13.


Designing and testing scene enhancement algorithms for patients with retina degenerative disorders.

Al-Atabany WI, Memon MA, Downes SM, Degenaar PA.

Biomed Eng Online. 2010 Jun 18;9:27. doi: 10.1186/1475-925X-9-27.

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