Vitreoretinal Research Publications

Publications

Alexander P, Gomersall P, Stancel-Lewis J, Fincham GS, Poulson AV, Richards AJ, McNinch AM, Baguley D, Snead MP. Auditory Dysfunction in Type 2 Stickler syndrome. In submission Int J Audiol
Nixon TRW, Richards AJ, Towns LK, Fuller G, Abbs S, Alexander P, McNinch A, Sandford R, Snead MP (2019). Bone morphogenetic protein 4 (BMP4) loss of function mutation associated with Autosomal Dominant Stickler Syndrome and renal dysplasia. In press Eur J Hum Genet
McArthur N. Rehm A, Shenker N, Richards AJ, McNinch AM, Poulson AV, Tanner J, Snead MP, Bearcroft P (2018). Stickler syndrome in children: a radiological review. Clinical Radiology. 73, 7, 678.e13-678.e18
Stefánsson E, Snead MP (2018). Rheology and the Eye: blood, tears and other humours. Eye, Eye (Lond). 2018 Feb;32(2):163
Chronopoulos A, Fallico M, Poulson AV, Snead MP (2018). A simple, inexpensive lasso for intraocular foreign body extraction. Retina, 38(4):862-864.
Scollo P, Snead MP, Richards AJ, Pollitt R, Devile C (2018). Bilateral Giant Retinal Tears in Osteogenesis Imperfecta. BMC Med Genet., 12;19(1):8. doi: 10.1186/s12881-018-0521-0.
Fincham G, James S, Spickett C, Hollingshead M, Thrasivoulou C, Poulson AV, McNinch A, Richards AJ, Snead D, Limb GA, Snead MP (2018). Posterior vitreous detachment and the posterior hyaloid membrane. Ophthalmology, 125:227- 236
Alexander P, Poulson A, McNinch A, Richards A, Snead M (2018). Type I membranous anomaly in Stickler syndrome. Ophthalmic Genet.;39(1):147
Dragoumis I, Richards AJ, Alexander P, Poulson A, Snead M (2017). Retinal detachment in severe myopia. The Lancet, 390, 124.
Svasti-Salee CR, Dawkins RCH, Poulson AV, Snead MP (2017). Single Port Vitrectomy and 'Oleodelamination' for the Management of Retinal Detachment Complicated by Proliferative Vitreoretinopathy. Retina, May 24. doi: 10.1097/IAE.0000000000001714.
Kunle-Hassan F, Dattani M, Snead M, Subash M (2016) Bilateral intraocular haemorrhage secondary to cerebral venous sinus thrombosis. Retina Cases Brief Rep. 2016 Oct 5. [Epub ahead of print]
Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V, Moore AT, Sowden JC, Michaelides M, Snead M, Tuft SJ, Hardcastle AJ (2016) Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. Am J Hum Genet. 99(6):1338-1352
Spickett C, Hysi P, Hammond CJ, Prescott A, Fincham GS, Poulson AV, McNinch AM, Richards AJ, Snead MP (2016). Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment. Hum Mutat. 37(10):1085-96
Heng LZ, Sandhu R, Snead DR, Poulson A, Snead M.(2016). Clinicopathologic Correlation of Lens Epithelial Metaplasia and Late Intraocular Lens Dislocation After Repair of Retinal Detachment. JAMA Ophthalmol. 134(7):827-30.
Heng LZ, Fearnley I, Khoramnia R,Tandogan T, Choi CY, Auffarth GU, Snead MP (2015). A Late Complication of Polymethyl methacrylate (PMMA) intraocular lens- an unusual degeneration. Journal of Clinical & Experimental Ophthalmology, In press
Sergouniotis PI, Fincham GS, McNinch AM, Spickett C, Poulson AV, Richards AJ, Snead MP. (2015) Ophthalmic and molecular genetic findings in Kniest dysplasia. Eye 29:475-482.
Bowes O, Snead MP, Elsey T, Baxter K, Cox TM (2014): Hereditary Hyperferritinaemia Cataract Syndrome. Lancet, 383 (9927): 1520
Fincham, GS, Pasea L, Carroll, C, McNinch AM, Poulson AV, Richards AJ, Scott JD, Snead MP. (2014). Prevention of retinal detachment in Stickler syndrome: the Cambridge Prophylactic Cryotherapy protocol. Ophthalmology, 121(8):1588-97
Richards AJ, Fincham G, McNinch A, Hill D, Castle B, Lees M, Moore A, Poulson AV, Scott JD, Snead MP (2013). Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss. J Med Genet., 50(11):765-71
Vijzelaar R, Waller S, Errami A, Donaldson A, Lourenco T, Rodrigues M, McConnell V, Fincham GS, Snead MP, Richards AJ (2013). Deletions within COL11A1 in Type 2 Stickler Syndrome Detected by Multiplex Ligation-Dependent Probe Amplification (MLPA). BMC Med Genet., 26;14:48
Kirin M, Chandra A, Charteris DG, Hayward C, Campbell S, Celap I, Bencic G, Vatavuk Z, Kirac I, Richards AJ, Tenesa A, Snead MP, Fleck BW, Singh J, Harsum S, MacLaren RE, den Hollander A, Dunlop MG, Hoyng CB, Wright AF, Campbell H, Vitart V, Mitry D (2013). Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment. Hum Mol Genet., 22(15):3174-85.
Clinical phenotypes associated with typeII collagen mutations (2012). Inderraj H, McNinch A, Richards A, Snead M. J. Pediatr. Child Health, 48 (10): 949-50.
Nagendran, S, Richards AJ, McNinch A, Sandford RN, Snead MP (2012). Somatic Mosaicism and the Phenotypic Expression of COL2A1 Mutations. Am J Med Genet A, 158A (5):1204-7.
Richards AJ, McNinch A, Whittaker J, Treacy B, Oakhill K, Poulson A, Snead MP (2012). Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations. Eur J Hum Genet. 20 (5) :552-8
Snead MP, McNinch AM, Poulson AV, Bearcroft P, Silverman B, Gomersall P, Parfect V, Richards AJ (2011): Stickler Syndrome, Ocular only variants and a key diagnostic role for the Ophthalmologist. Eye, 25:1389-400
Richards AJ, McNinch A, Martin H, Oakhill K, Rai H, Waller S, Treacy B, Whittaker J, Meredith S, Poulson A, Snead MP (2010): Stickler syndrome and the vitreous phenotype: Mutations in COL2A1 and COL11A1. Hum Mutat. 31(6):E1461-71
Snead MP, Snead DR, James S, Richards AJ (2008): Clinicopathological changes at the vitreoretinal junction: posterior vitreous detachment. Eye, 22, 1257 – 1262.
Snead DR, James S, Snead MP (2008): Pathological changes in the vitreoretinal junction 1: epiretinal membrane formation. Eye, 22, 1310 – 1317.
Richards AJ, Snead MP (2008): The influence of pre-mRNA splicing on phenotypic modification in Stickler's syndrome and other type II collagenopathies. Eye, 22, 1243 – 1250.
Snead MP, Scott JD, Ang A, Poulson AV, Goodburn SF, Richards AJ (2008): Ophthalmology, letter, 115, 9, 1637-1638.
Ang A, Poulson AV, Goodburn SF, Richards AJ, Scott JD, Snead MP (2008): Retinal detachment and prophylaxis in type 1 Stickler syndrome. Ophthalmology 115(1):164-8
Meredith SP, Richards AJ, Bearcroft P, Poulson AV, Snead MP.(2007): Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen. Br J Ophthalmol. 2007 Mar 8; [Epub ahead of print]
Richards AJ, Laidlaw M, Meredith SP, Shankar P, Poulson AV, Scott JD, Snead MP (2007): Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms. Hum. Mutat. 28(6):639.
Shankar P, Bradshaw SE, Ang A, Rennie IG, Snead DR, Snead MP (2007). Vascularised epiretinal membrane associated with vasoproliferative tumour. Eye., 21(7):1003-4.
Alexander P, Prasad R, Ang A, Poulson AV, Scott JD, Snead MP (2008): Prevention and control of proliferative vitreoretinopathy: Primary retinal detachment surgery using silicone oil as a planned 2-stage procedure in high risk cases. Eye, 22(6):815-8
Snead MP, Scott JD (2007): Silicone oil migration causing increasing proptosis 13 years after retinal surgery. Eye; 21(4):550-1
Ang A, Ung T, Puvanachandra N, Wilson L, Howard F, Ryalls M, Richards A, Meredith S, Laidlaw M, Poulson A, Scott J, Snead M.(2007): Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity. Am J Med Genet 143(6):604-7.
Meredith SP, Richards AJ, Flanagan DW, Scott JD, Poulson AV, Snead MP (2007): Clinical characterisation and molecular analysis of Wagner syndrome. Br J Ophthalmol; 91:655-9
Robbie SJ, Snead MP (2007): Intravitreal triamcinolone staining observation of residual undetached cortical vitreous after posterior vitreous detachment, Eye, 21(2):285-6;
Alexander P, Ang A, Poulson A, Snead MP.(2008): Scleral buckling combined with vitrectomy for the management of rhegmatogenous retinal detachment associated with inferior retinal breaks. Eye, 22(2):200-3
Richards AJ, Laidlaw M, Whittaker J, Treacy R, Rai H, Bearcroft P, Baguley DM, Poulson A, Ang A, Scott JD, Snead MP (2006) : High Efficiency of Mutation Detection in Type 1 Stickler Syndrome using a Two Stage Approach: Vitreoretinal Assessment Coupled with Exon Sequencing for Screening COL2A1. Hum. Mutat. 27:696-704.
Macrae ME, Patel DV, Richards AJ, Snead MP, Tolmie J, Lee WR (2006): Type 1 Stickler syndrome: a histological and ultrastructural study of an untreated globe. Eye, 20(9):1061-7.
Ang A, Snead DRJ, James S, Yeo YC, Satchi K, Morris AHC, Poulson AV, Scott JD, Snead MP (2006): A rationale for membrane peeling in the repair of stage 4 macular holes. Eye. 20 (2) :208-14
Ioannidis AS, Liasis A, Sheldrick J, Snead M, Nischal KK (2005). Lamellar macular hole as the presenting feature in a child with Coats' disease. J Pediatr Ophthalmol Strabismus, 42(6):378-9
Richards AJ, Meredith S, Bearcroft PWP, Poulson AV, Crossland G, Baguley DM, Scott JD, Snead MP (2005): A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. Invest. Ophthalmol. Vis Sci., 46(2): 663-8.
Ung T, Comer MB, Ang AJS, Sheard R, Lee C, Poulson AV, Newman DK, Scott JD, Richards AJ, Snead MP (2005): Clinical features and surgical management of retinal detachment secondary to round retinal holes. Eye, 19 (6) :665-9.
Ang A, Poulson AV, Snead DR, Snead MP (2005). Posterior vitreous detachment: Current concepts and management. Comp. Ophthalmol. Update, Vol 6, No4.
Poulson AV, Hooymans J, Richards AJ, Bearcroft P, Murthy R, Baguley D, Scott JD, Snead MP (2004): Clinical features of Type 2 Stickler syndrome. J. Med. Genet. Aug; 41(8): e107 (http://www.jmedgenet.com/cgi/content/full/41/8/e107)
Poulson AV, Snead DRJ, Ahmad N, Snead MP (2004): Intraocular surgery for optic nerve disorders. Eye, 18 (11) :1056-65
Snead DRJ, Cullen N, James S, Poulson AV, Morris AHC ,Lukaris A, Scott JD, Richards AJ, Snead MP (2004): Hyperconvolution of the inner limiting membrane in vitreomaculopathies. Graefes Arch Clin Exp Ophthalmol., 242 (10) :853-862
Addison P, Snead DRJ, Snead MP (2004): Radiation retinopathy secondary to radiotherapy for a lower lid BCC. Eye, 18(12):1273-4.
Goldsmith, C, Snead, MP, Scott, JD (2003): Scleral buckling surgery. Eye News, 9, 31 – 36.
Sheard, RM, Goodburn SF, Comer MB, Scott JD, Snead MP (2003): Posterior vitreous detachment after neodymium:YAG laser posterior capsulotomy. J. Cat. and Refractive Surgery, 29, 930 – 934.
Ahmad N., Richards AJ., Murfitt HC., Shapiro L., Scott, JD, Yates JRW., Norton J., Snead MP (2003): Mitral valve prolapse in Stickler syndrome. Am. J. Med. Genet., 116A: 234 – 237.
Snead MP, Richards AJ (2002): A frame shift mutation in a tissue specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. Am J Ophthalmol., 134 (3):473
Thompson JA, Snead MP, Billington BM, Barrie T, Thompson JR, Sparrow JM (2002): National audit of the outcomes of primary surgery for rhegmatogenous retinal detachment (I) Sample and methods. Eye, Nov;16(6):766-70.
Thompson JA, Snead MP, Billington BM, Barrie T, Thompson JR, Sparrow JM (2002): National audit of the outcomes of primary surgery for rhegmatogenous retinal detachment (II) Clinical outcomes. Eye, Nov;16(6):771-7.
Richards AJ, Morgan J, Pickering E, Owen MJ, Holmans P, Williams N, Tysoe C, Pope FM, Snead MP, Hughes H (2002): Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule. J Med Genet. Sep;39(9):661-5.
Patel DV, Snead MP, Satchi K (2002):Retinal arteriolar calcification in a patient with chronic renal failure. Br. J. Ophthalmol., 86, 1063
Sheard RM, Pope FM, Snead MP (2002): A novel ophthalmic presentation of the Proteus Syndrome. Ophthalmology, 119, 1192 – 1195.
Snead MP, Snead DRJ, Richards AJ, Poulson AV, Morris AHC, Scott JD (2002): Clinical, histological and ultrastructural studies of the posterior hyaloid membrane. Eye, 16, 447 - 453
Richards, AJ, Scott JD, Snead MP (2002): Molecular genetics of rhegmatogenous retinal detachment. Eye, 16, 388 - 392
Rennie CA, Newman DK., Snead MP., Flanagan DW (2001): Nd YAG laser treatment for premacular subhyaloid heamorrhage. Eye, 15 (4): 519 – 524.
Sheard RM, Snead MP (2001): Proteus Syndrome associated with ocular anomalies.
Jackson, TL., Thiagarajan, M., Murthy, R., Snead, MP., Wong, D., Williamson, TH.: (2001): Pupil block glaucoma in phakic and pseudophakic patients following vitrectomy with silicone oil injection. Am. J. Ophthalmol., 132, 414-416.
Richards, AJ., Martin, S., Yates, JRW., Baguley, DM., Pope, FM., Scott, JD., Snead MP.,(2000): Variations in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. Am. J. Hum. Gent. 67, 1083 – 1094.
Snead MP, Yates JRW, Scott JD, Baguley DM, Pope FM, Martin S, Richards AJ (2000):
Richards, AJ., Martin, S., Yates, JRW., Baguley, DM., Pope, FM., Scott, JD., Snead, MP.,(2000): COL2A1 exon 2 mutations: Relevance to the Stickler and Wagner syndromes.. Br. J. Ophthalmol., 84, 364 – 371
Snead, MP.(1999): Pneumatic retinopexy: new breaks for old? Editorial. Eye,13, 709 - 710.
Martin, S. Richards, AJ., Yates, JR., Scott, JD., Pope, M., Snead, MP (1999): Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. Eur. J. Hum. Genet., 7, 807 - 814.
Snead, MP., Yates, JRW.(1999): Clinical and molecular genetics of Stickler syndrome. J. Med. Genet., 5, 353 - 359.
Snead MP., Scott, JD. (1998): Results of primary retinal detachment surgery: A prospective audit.(letter). Eye, 12, 750-751.
Snead MP., Snead, DRJ., Harrison, JB., Scott, JD (1997): Vitreous detachment and the posterior hyaloid membrane: a clinical, histological and ultrastructural study. Inv. Ophthalmol. Vis. Sci., A3160 - B850.
Herbert, EN., Snead MP. (1997): The importance of injection rate in achieving a single intraocular gas bubble. (letter). Eye, 11, 571 - 572.
Snead MP., Yates, JRW., Williams, R., Payne, SJ., Pope, FM., Scott, JD. (1996):
Richards, AJ., Pope, FM., Yates, JRW., Scott, JD., Snead MP. (1996): A family with Stickler syndrome Type 2 Has a Mutation in the COL11A1 Gene Resulting in the Substitution of Glycine 97 by Valine in α1(XI) Collagen. Hum. Mol. Genet., 5, 1339 - 1343.
Snead MP. (1996): Hereditary vitreopathy. Eye, 10, 653 – 663
Snead MP., Payne, SJ., Barton, DE.,Yates, JRW., Pope, FM., Temple, IK., Scott, JD. (1996): Masked confirmation of linkage between Type 1 congenital vitreous anomaly and COL 2A1 in Stickler syndrome . Graefe's Arch Clin and Exp Ophthalmol., 234, 720 - 721.
Snead MP., Poulson, A., Newman, D., Scott, JD. (1995): Hereditary vitreo-retinal disease and the pseudo-posterior limiting layer syndrome. (letter) Graefe's Arch. Clin. Exp.Ophthalmol., 223, 805 - 806.
Newman DK., Snead MP., Flanagan, DW., Scott, JD. (1995): Thrombolysis in patients with diabetes. (letter) B.M.J., 310, 100
Snead MP, Payne, SJ, Barton, DE, Yates, JRW., Al-Imara, L., Pope, FM., Scott, JD. (1994): Stickler syndrome: correlation between vitreo-retinal phenotypes and linkage to COL 2A1. Eye, 8, 609 - 614.
Cheah, CKL, Snead MP, Scott, JD. (1994): Cyclocryotherapy for chronic glaucoma after vitreoretinal surgery. eye, 8, 414 - 418.
Snead MP., Snead, DRJ., Mahmood, A., Scott, JD. (1994): Vitreous detachment and the posterior hyaloid membrane: a clinicopathological study. Eye, 8, 204 - 209.
Snead MP. (1993): Ocular therapy with silicone oils. Curr. Opin. Ophthalmol., 4, 36 -43.
Snead MP., James, JN., Snead, DRJ., Robson, DK., Rizk, SNM. (1993): Orbital lymphomas and Castleman's disease. eye, 7, 84 - 88.
Snead MP. (1993): Nodal points and capsulotomy size. J. Cataract Refract. Surg. (letter), 19, 669.
Winder, S., Snead MP., Haworth, SM (1993): Prevention of retinal burns by using anterior chamber air. Eur. J. Implant Ref. Surg., 5, 272 - 273.
Snead MP., Rubinstein, MP., Jacobs, PM. (1992): The optics of fundus examination. Surv. Ophthalmol., 36, 439 - 445.
Snead MP., James, JN., Jacobs, PM. (1991): Vitrectomy, argon laser and gas tamponade for serous retinal detachment associated with an optic disc pit. Br. J. Ophthalmol., 75, 381 - 382.
Snead MP., Hardman Lea, SJ., Rubinstein, MP., Reynolds, KR., Haworth, SM. (1991):
Snead MP., Hardman Lea, SJ., Rubinstein, MP., Reynolds, KR., Haworth, SM. (1991): Aniseikonia: A method of objective assessment in pseudophakia using geometric optics.
Snead MP., James, JN., Clarke, MP., Jacobs, PM. (1991): Giant aneurysm of the internal
Hardman Lea, SJ., Snead MP., Loades, J., Rubinstein, MP. (1991): Microtropia versus
Snead MP., Rubinstein, MP., Hardman Lea, SJ., Haworth, SM. (1990): Calculated versus A scan result for axial length using different types of ultrasound tip. eye, 4, 718 - 722.
Vernon, SA., Hardman Lea, SJ., Snead MP. (1990): White light interferometry in amblyopic children. eye, 4, 802 - 805.
Hardman Lea, SJ., Rubinstein, MP., Snead MP., Haworth, SM. (1990): Pseudophakic accommodation? A study of capsular bag supported, one piece, rigid tripod or soft flexible implants. Br. J. Ophthalmol., 74, 22 - 25.

Books

Snead MP. (1998): A guide to the use of the indirect ophthalmoscope. Keeler Instruments.

Chapters in Books

Snead MP (2019). Stickler syndrome and allied collagen vitreoretinopathies. Chapter in: Practical Genomics for Clinical Ophthalmology. Editors Ashworth J, Black GCM, Leroy PB, Elsevier Saunders, In press
Snead, MP (2016): Retinal detachment in childhood. Chapter in: Paediatric Ophthalmology and Strabismus 5th Edition. Editors Lyons C & Hoyt C. Elsevier Saunders
Snead MP and Richards AJ (2014): Hereditary Vitreoretinopathies. Chapter in: The Vitreous in Health and Disease. Editor-in-Chief J Seebag. Springer p21-40.
Snead, MP (2013): Retinal detachment in childhood. Chapter in: Paediatric Ophthalmology and Strabismus 4th Edition. Editors Taylor D, Hoyt C. Elsevier Saunders, pages 530-42.
Meredith S, Snead MP (2011): Inherited Vitreoretinopathies. Chapter in "The Retina and its Disorders", Eds. Besharse JC and Bok DP, Elsevier (Academic Press) 252 – 262.
Poulson AV, Snead MP (2006) Childhood Retinal Detachment. Chapter in Essentials in Ophthalmology: Pediatric Ophthalmology, Neuro-Ophthalmology, Genetics. Ed B Lorenz, AT Moore. Springer. 191-203.
Snead, MP (2005): Retinal detachment in childhood. Chapter in: Paediatric Ophthalmology and Strabismus, Eds. Taylor, D, Hoyt C. Blackwell Scientific Publications.
Snead, MP (2005): Giant Retinal Tear. Chapter in: Essentials in Ophthalmology – Vitreoretinal Surgery, 89 - 100. Eds Kirchhof B and Wong D. Springer-Verlag.
Snead, MP., Moore, AT. (1996): Assessment of the apparently blind infant. Chapter in: Recent advances in ophthalmology. Churchill Livingstone.
Snead, MP., Moore, AT. (1996): Retinal detachment in childhood. Chapter in: Paediatric Ophthalmology. Second edition, Ed. Taylor, D. Blackwell Scientific Publications, 627 – 639