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Ajoy Vincent

TitleStaff Physician
InstitutionThe Hospital for Sick Children
DepartmentOphthalmology
Address555 University Avenue
Toronto ON M5G 1X8
Phone416-813-1500
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Shao Z, Masuho I, Tumber A, Maynes JT, Tavares E, Ali A, Hewson S, Schulze A, Kannu P, Martemyanov KA, Vincent A. Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes. Genes (Basel). 2021 Aug 29; 12(9). PMID: 34573334.
      View in: PubMed
    2. Igelman AD, Ku C, da Palma MM, Georgiou M, Schiff ER, Lam BL, Sankila EM, Ahn J, Pyers L, Vincent A, Ferraz Sallum JM, Zein WM, Oh JK, Maldonado RS, Ryu J, Tsang SH, Gorin MB, Webster AR, Michaelides M, Yang P, Pennesi ME. Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. Ophthalmic Genet. 2021 Jul 05; 1-10. PMID: 34223797.
      View in: PubMed
    3. Heitkotter H, Linderman RE, Cava JA, Woertz EN, Mastey RR, Summerfelt P, Chui TY, Rosen RB, Patterson EJ, Vincent A, Carroll J, Minassian BA. Retinal alterations in patients with Lafora disease. Am J Ophthalmol Case Rep. 2021 Sep; 23:101146. PMID: 34195479.
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    4. Georgiou M, Fujinami K, Vincent A, Nasser F, Khateb S, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, De Guimarães TAC, Robson AG, Mahroo OA, Pontikos N, Arno G, Fujinami-Yokokawa Y, Leo SM, Liu X, Tsunoda K, Hayashi T, Jimenez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Carreño E, Garcia-Sandoval B, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Boon CJF, Banin E, Pennesi ME, Wissinger B, Webster AR, Héon E, Khan AO, Zrenner E, Michaelides M. KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2. Am J Ophthalmol. 2021 Mar 15; 230:1-11. PMID: 33737031.
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    5. Leahy KE, Wright T, Grudzinska Pechhacker MK, Audo I, Tumber A, Tavares E, MacDonald H, Locke J, VandenHoven C, Zeitz C, Heon E, Buncic JR, Vincent A. Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness. Genes (Basel). 2021 02 25; 12(3). PMID: 33668843.
      View in: PubMed
    6. Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO, Webster AR, Zrenner E, Héon E, Michaelides M. KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1. Am J Ophthalmol. 2021 05; 225:95-107. PMID: 33309813.
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    7. Tabbarah S, Tavares E, Charish J, Vincent A, Paterson A, Di Scipio M, Yin Y, Mendoza-Londono R, Maynes J, Heon E, Monnier PP. COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage. Sci Rep. 2020 12 04; 10(1):21269. PMID: 33277529.
      View in: PubMed
    8. Biswas A, Yossofzai O, Vincent A, Go C, Widjaja E. Vigabatrin-related adverse events for the treatment of epileptic spasms: systematic review and meta-analysis. Expert Rev Neurother. 2020 12; 20(12):1315-1324. PMID: 33078964.
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    9. Birch DG, Cheng P, Duncan JL, Ayala AR, Maguire MG, Audo I, Cheetham JK, Durham TA, Fahim AT, Ferris FL, Heon E, Huckfeldt RM, Iannaccone A, Khan NW, Lad EM, Michaelides M, Pennesi ME, Stingl K, Vincent A, Weng CY. The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline. Transl Vis Sci Technol. 2020 10; 9(11):9. PMID: 33133772.
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    10. Grudzinska Pechhacker MK, Yoon G, Hazrati LN, Maynes J, MacDonald H, Tavares E, Vincent A, Heon E. FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy. Eur J Med Genet. 2020 Nov; 63(11):104037. PMID: 32822874.
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    11. Quinn MP, MacKeen LD, Vincent A, Strube YNJ. Early ocular findings in Cohen syndrome: case report and Canadian survey study. Can J Ophthalmol. 2021 02; 56(1):e26-e28. PMID: 32777201.
      View in: PubMed
    12. Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G, Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawinski P, Ploski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E. DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Genet Med. 2020 12; 22(12):2041-2051. PMID: 32753734.
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    13. Di Scipio M, Tavares E, Deshmukh S, Audo I, Green-Sanderson K, Zubak Y, Zine-Eddine F, Pearson A, Vig A, Tang CY, Mollica A, Karas J, Tumber A, Yu CW, Billingsley G, Wilson MD, Zeitz C, Héon E, Vincent A. Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization. Invest Ophthalmol Vis Sci. 2020 08 03; 61(10):36. PMID: 32881472.
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    14. Grudzinska Pechhacker MK, Di Scipio M, Vig A, Tumber A, Roslin N, Tavares E, Vincent A, Hèon E. CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency. Ophthalmic Genet. 2020 10; 41(5):457-464. PMID: 32689861.
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    15. Sanderson KG, Millar E, Tumber A, Klatt R, Sondheimer N, Vincent A. Rod bipolar cell dysfunction in POLG retinopathy. Doc Ophthalmol. 2021 02; 142(1):111-118. PMID: 32567010.
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    16. Kletke SN, Vincent A, Maynes JT, Elbaz U, Mireskandari K, Lam WC, Ali A. A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy. Ophthalmic Genet. 2020 08; 41(4):358-362. PMID: 32429730.
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    17. Shao Z, Tumber A, Maynes J, Tavares E, Kannu P, Heon E, Vincent A. Unique retinal signaling defect in GNB5-related disease. Doc Ophthalmol. 2020 06; 140(3):273-277. PMID: 31720979.
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    18. Mastey RR, Georgiou M, Langlo CS, Kalitzeos A, Patterson EJ, Kane T, Singh N, Vincent A, Moore AT, Tsang SH, Lin JH, Young MP, Hartnett ME, Héon E, Kohl S, Michaelides M, Carroll J. Characterization of Retinal Structure in ATF6-Associated Achromatopsia. Invest Ophthalmol Vis Sci. 2019 06 03; 60(7):2631-2640. PMID: 31237654.
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    19. Tavares E, Tang CY, Vig A, Li S, Billingsley G, Sung W, Vincent A, Thiruvahindrapuram B, Héon E. Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome. Mol Genet Genomic Med. 2019 02; 7(2):e00521. PMID: 30484961.
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    20. Liu H, Ji X, Dhaliwal S, Rahman SN, McFarlane M, Tumber A, Locke J, Wright T, Vincent A, Westall C. Evaluation of light- and dark-adapted ERGs using a mydriasis-free, portable system: clinical classifications and normative data. Doc Ophthalmol. 2018 12; 137(3):169-181. PMID: 30357588.
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    21. Vincent A, Macrì A, Tumber A, Koukas N, Ahonen S, Striano P, Minassian B. Ocular phenotype and electroretinogram abnormalities in Lafora disease: A "window to the brain". Neurology. 2018 07 17; 91(3):137-139. PMID: 29907606.
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    22. Shabanova I, Cohen E, Cada M, Vincent A, Cohn RD, Dror Y. ERCC6L2-associated inherited bone marrow failure syndrome. Mol Genet Genomic Med. 2018 05; 6(3):463-468. PMID: 29633571.
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    23. Hirji N, Bradley PD, Li S, Vincent A, Pennesi ME, Thomas AS, Heon E, Bhan A, Mahroo OA, Robson A, Inglehearn CF, Moore AT, Michaelides M. Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta. Am J Ophthalmol. 2018 04; 188:123-130. PMID: 29421294.
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    24. Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2018 04; 20(4):435-443. PMID: 28771251.
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    25. Gerth-Kahlert C, Tiwari A, Hanson JVM, Batmanabane V, Traboulsi E, Pennesi ME, Al-Qahtani AA, Lam BL, Heckenlively J, Zweifel SA, Vincent A, Fierz F, Barthelmes D, Branham K, Khan N, Bahr A, Baehr L, Magyar I, Koller S, Azzarello-Burri S, Niedrist D, Heon E, Berger W. C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Invest Ophthalmol Vis Sci. 2017 08 01; 58(10):3840-3850. PMID: 28763557.
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    26. Dinur Schejter Y, Ovadia A, Alexandrova R, Thiruvahindrapuram B, Pereira SL, Manson DE, Vincent A, Merico D, Roifman CM. A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome. NPJ Genom Med. 2017; 2:23. PMID: 29263834.
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    27. Ku CA, Hull S, Arno G, Vincent A, Carss K, Kayton R, Weeks D, Anderson GW, Geraets R, Parker C, Pearce DA, Michaelides M, MacLaren RE, Robson AG, Holder GE, Heon E, Raymond FL, Moore AT, Webster AR, Pennesi ME. Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration. JAMA Ophthalmol. 2017 07 01; 135(7):749-760. PMID: 28542676.
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    28. Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. Blood. 2017 03 16; 129(11):1557-1562. PMID: 28062395.
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    29. Chiang WC, Chan P, Wissinger B, Vincent A, Skorczyk-Werner A, Krawczynski MR, Kaufman RJ, Tsang SH, Héon E, Kohl S, Lin JH. Achromatopsia mutations target sequential steps of ATF6 activation. Proc Natl Acad Sci U S A. 2017 01 10; 114(2):400-405. PMID: 28028229.
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    30. Vincent A, Ng J, Gerth-Kahlert C, Tavares E, Maynes JT, Wright T, Tiwari A, Tumber A, Li S, Hanson JV, Bahr A, MacDonald H, Bähr L, Westall C, Berger W, Cremers FP, den Hollander AI, Héon E. Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis. Invest Ophthalmol Vis Sci. 2016 05 01; 57(6):2637-46. PMID: 27258436.
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    31. Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. Am J Hum Genet. 2016 05 05; 98(5):1011-1019. PMID: 27063057.
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    32. Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Hum Mol Genet. 2016 06 01; 25(11):2283-2294. PMID: 27008867.
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    33. Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Nat Genet. 2015 Jul; 47(7):757-65. PMID: 26029869.
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    34. Bourgault S, Baril C, Vincent A, Héon E, Ali A, MacDonald I, Lueder GT, Colleaux KM, Laliberté I. Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series. Br J Ophthalmol. 2015 Nov; 99(11):1536-42. PMID: 25926518.
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    35. Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Héon E, Bitner-Glindzicz M, Webster AR. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. Eur J Hum Genet. 2015 Oct; 23(10):1318-27. PMID: 25649381.
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    36. Vincent A, Forster N, Maynes JT, Paton TA, Billingsley G, Roslin NM, Ali A, Sutherland J, Wright T, Westall CA, Paterson AD, Marshall CR, Héon E. OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. J Med Genet. 2014 Dec; 51(12):797-805. PMID: 25293953.
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    37. Sergeev YV, Vitale S, Sieving PA, Vincent A, Robson AG, Moore AT, Webster AR, Holder GE. Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes. Hum Mol Genet. 2013 Dec 01; 22(23):4756-67. PMID: 23847049.
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    38. Vincent A, Robson AG, Neveu MM, Wright GA, Moore AT, Webster AR, Holder GE. A phenotype-genotype correlation study of X-linked retinoschisis. Ophthalmology. 2013 Jul; 120(7):1454-64. PMID: 23453514.
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    39. Vincent A, Wright T, Garcia-Sanchez Y, Kisilak M, Campbell M, Westall C, Héon E. Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram". Invest Ophthalmol Vis Sci. 2013 Jan 30; 54(1):898-908. PMID: 23221069.
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    40. Vincent A, Robson AG, Holder GE. Pathognomonic (diagnostic) ERGs. A review and update. Retina. 2013 Jan; 33(1):5-12. PMID: 23263253.
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    41. Vincent A, Munier FL, Vandenhoven CC, Wright T, Westall CA, Héon E. The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration. Retina. 2012 Sep; 32(8):1643-51. PMID: 22277927.
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    42. Billingsley G, Vincent A, Deveault C, Héon E. Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. Ophthalmic Genet. 2012 Sep; 33(3):150-4. PMID: 22626039.
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    43. Vincent A, Wright T, Day MA, Westall CA, Héon E. A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. Mol Vis. 2011; 17:3262-70. PMID: 22194652.
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    44. Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat. 2011 Jun; 32(6):610-9. PMID: 21344540.
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    45. Vincent A, Wright T, Billingsley G, Westall C, Héon E. Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders. Ophthalmic Genet. 2011 Jun; 32(2):107-13. PMID: 21268679.
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    46. Vincent A, Shetty R, Devi SA, Kurian MK, Balu R, Shetty B. Functional involvement of cone photoreceptors in advanced glaucoma: a multifocal electroretinogram study. Doc Ophthalmol. 2010 Aug; 121(1):21-7. PMID: 20336478.
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    47. Vincent A, Shetty R, Kurian M, Shetty BK. Prospective, cross-sectional study, demonstrating efficacy of blue fixation target while recording Pattern Visual Evoked Potential in optic neuropathy. Doc Ophthalmol. 2009 Oct; 119(2):89-99. PMID: 19513771.
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    48. Shetty R, Pai SA, Vincent A, Shetty N, Narayana KM, Sinha B, Shetty BK. Electrophysiological and structural assessment of the central retina following intravitreal injection of bevacizumab for treatment of macular edema. Doc Ophthalmol. 2008 Mar; 116(2):129-35. PMID: 17960440.
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