1. Faculty of Medicine and Health
  2. School of Medicine
  3. Research groups
  4. Vision Research Group

Vision Research Group

  • Group summary: The Vision Research Group uses a variety of approaches to study diseases of the eye and of vision.

What we do

Eye diseases are a common cause of human disability and many of them are inherited. We work on a range of Mendelian and complex eye disorders including retinal degeneration (Retinitis Pigmentosa, Leber’s Congenital Amaurosis, Cone and Cone-Rod Dystrophy and Ageing Macular Dystrophy), retinal vascular disorders (FEVR, Coats disease), optic neuropathies (Optic Atrophy, Optic Nerve Hypoplasia); diseases of the cornea (Fuchs Endothelial Dystrophy, Keratoconus), Cataract, Glaucoma and developmental eye disorders (Foveal Hypoplasia, Retinal Dysplasia, Microphthalmia).

Our work aims to determine and study the causes of these debilitating human conditions and contribute to the search for therapies. We work closely with Opthalmologists, Geneticists and diagnostic genetics services, both locally and worldwide, to translate our findings into diagnostic tests for patient benefit. We are leading members of UK and European collaborative networks of like-minded researchers. Our approaches include next generation sequencing of exomes, genomes and transcriptomes, autozygosity mapping, large scale bioinformatics, immunohistochemistry, confocal microscopy and other imaging technologies, the study of cell–based models of disease created by siRNA knockdown or CRISPR genome editing, and examining relevant animal models.

Funding

Key publications

Key publications our team has contributed to

  1. Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes. Astuti GDN, van den Born LI, Khan MI, Hamel CP, Bocquet B, Manes G, Quinodoz M, Ali M, Toomes C, McKibbin M, El-Asrag ME, Haer-Wigman L, Inglehearn CF, Black GCM, Hoyng CB, Cremers FPM, Roosing S. Genes (Basel). 2018 Jan 10;9(1). pii: E21.
     
  2. Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. Panagiotou ES, Sanjurjo Soriano C, Poulter JA, Lord EC, Dzulova D, Kondo H, Hiyoshi A, Chung BH, Chu YW, Lai CHY, Tafoya ME, Karjosukarso D, Collin RWJ, Topping J, Downey LM, Ali M, Inglehearn CF, Toomes C. Am J Hum Genet. 2017 Jun 1;100(6):960-968.
     
  3. Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Rueda Martin A, Smith KR, Ali M, Toomes C, McKibbin M, Clayton-Smith J, Grunewald S, Michaelides M, Moore AT, Hardcastle AJ, Inglehearn CF, Webster AR, Black GC; UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project. JAMA Ophthalmol. 2017 Apr 1;135(4):339-347.
     
  4. Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Bedoni N, Haer-Wigman L, Vaclavik V, Tran VH, Farinelli P, Balzano S, Royer-Bertrand B, El-Asrag ME, Bonny O, Ikonomidis C, Litzistorf Y, Nikopoulos K, Yioti GG, Stefaniotou MI, McKibbin M, Booth AP, Ellingford JM, Black GC, Toomes C, Inglehearn CF, Hoyng CB, Bax N, Klaver CC, Thiadens AA, Murisier F, Schorderet DF, Ali M, Cremers FP, Andréasson S, Munier FL, Rivolta C. Hum Mol Genet. 2016 Oct 15;25(20):4546-4555.
     
  5. Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA; UK Inherited Retinal Disease Consortium, Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M. Am J Hum Genet. 2015 Jun 4;96(6):948-54.
     
  6. A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer's disease. Butler JM, Sharif U, Ali M, McKibbin M, Thompson JP, Gale R, Yang YC, Inglehearn C, Paraoan L. Hum Genet. 2015 Jul;134(7):705-15.
     
  7. Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. Watson CM, El-Asrag M, Parry DA, Morgan JE, Logan CV, Carr IM, Sheridan E, Charlton R, Johnson CA, Taylor G, Toomes C, McKibbin M, Inglehearn CF, Ali M. PLoS One. 2014 Aug 18;9(8):e104281.
     
  8. Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. Lechner J, Porter LF, Rice A, Vitart V, Armstrong DJ, Schorderet DF, Munier FL, Wright AF, Inglehearn CF, Black GC, Simpson DA, Manson F, Willoughby CE. Hum Mol Genet. 2014 Oct 15;23(20):5527-35.
     
  9. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Collin RW, Nikopoulos K, Dona M, Gilissen C, Hoischen A, Boonstra FN, Poulter JA, Kondo H, Berger W, Toomes C, Tahira T, Mohn LR, Blokland EA, Hetterschijt L, Ali M, Groothuismink JM, Duijkers L, Inglehearn CF, Sollfrank L, Strom TM, Uchio E, van Nouhuys CE, Kremer H, Veltman JA, van Wijk E, Cremers FP. Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9856-61.
     
  10. Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome. Wheway G, Abdelhamed Z, Natarajan S, Toomes C, Inglehearn C, Johnson CA. Dev Biol. 2013 May 1;377(1):55-66.
     
  11. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C. Am J Hum Genet. 2013 Dec 5;93(6):1143-50.
     
  12. Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M; Finding of Rare Disease Genes (FORGE) Canada Consortium, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R. Nat Genet. 2012 Sep;44(9):1035-9.

 

Who we are

People

Group Lead
Chris Inglehearn, Professor of Molecular Ophthalmology 

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