Vision Research Group: Retinal Dystrophies

Group Leader: Chris Inglehearn, Professor of Molecular Ophthalmology

Understanding the causes of human visual defects

Much of the work of the retinal dystrophy group has consisted of identifying and studying the proteins which, when defective, give rise to a series of Mendelian diseases affecting the retina. These conditions include retinitis pigmentosa, cone-rod dystrophy and Leber congenital amaurosis, as well as many rarer conditions and syndromes involving defects of the retina and other body systems. We also have a research interest in ageing macular dystrophy (AMD), a retinal condition with complex causes including an inherited predisposition. In AMD we seek both to identify further contributory genetic factors and also to understand the genetic contribution to response to treatment with anti-VEGF therapy. In addition in our research we increasingly seek to roll out our findings into diagnostic tests for patients, in collaboration with the Yorkshire Regional Genetics Service.

Retinal Dystrophies

Figure 1 Human retinal section stained with an antibody to the LCA5 gene.


Professor Chris Inglehearn – Group Leader
Ms Claire Smith, PhD student (Lead Supervisor)
Mr Ahmed Al-Amri, PhD student (Co-supervisor)
Mr Mohammed El-Asrag, PhD student (Co-supervisor)
Ms Salina Siddiqui, PhD student (Co-supervisor)
Ms Layal Abi Farraj, PhD student (Co-supervisor)
Mr Tom Thompson - Research Technician
Dr Jose Ivorra Martinez, Visiting Research Fellow
Ms Patricia Grant, Project Administrator (for EyeTN)
Mr Martin McKibbin, Consultant Ophthalmologist, Honorary Senior Lecturer


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 (2015). Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement. Am J Hum Genet. 96:948-54.  

Butler JM, Sharif U, Ali M, McKibbin M, Thompson JP, Gale R, Yang YC, Inglehearn C, Paraoan L (2015). A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer's disease. Hum Genet [Epub ahead of print]  

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 (2014). Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. Hum Mol Genet. 23:5527-35.  

Poulter JA, Murillo G, Brookes SJ, Smith CE, Parry DA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ (2014). Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. Hum Mol Genet. 23:5317-24.


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 (2013). Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet. 93:1143-50.



EyeTN - Beyond the Genome; training the next generation of ophthalmic researchers. European Union Initial Training Network across 7 European Centres, Co-ordinated by Prof Chris Inglehearn. 1.11.12 to 31.10.16

Ciliopathy disease gene identification by whole exome medical resequencing. MRC project grant awarded to Professor Colin Johnson (PI), Prof Chris Inglehearn (Co-I) and Dr Eamonn Sheridan, University of Leeds. 1/11/12 – 31/10/15.

Identification of major risk alleles for schizophrenia in consanguineous families. Medical Research Council Project grant awarded to Dr Steve Clapcote (PI), Prof Chris Inglehearn (Co-I) and Dr Alastair Cardno.  1/4/12 – 31/3/14.

Understanding mammalian biomineralisation in health and disease via a molecular dissection of the mechanisms underpinning amelogenesis imperfecta. Wellcome Trust project grant awarded to Prof Jennifer Kirkham (PI), Prof Mike Dixon, Dr Alan Mighell and Prof Chris Inglehearn (Co-I). 1/10/11 – 30/9/14.

Genetic analysis of corneal endothelial dystrophies. MRC Clinical Training Fellowship awarded to Salina Siddiqui. Supervisors Prof Chris Inglehearn (sponsor), Dr Manir Ali and Dr Carmel Toomes. 1/9/11 – 31/8/14.

Determining the Genetic Basis of Keratoconus and Implications for Treatment. Fight For Sight PhD studentship award to Prof Chris Inglehearn (PI), Dr Manir Ali and Dr Carmel Toomes. 1/11/11 – 31/10/14.

An international resource for the autozygosity mapping and identification of recessive disease genes in consanguineous families. The Sir Jules Thorn Award for Biomedical Research (programme grant from the Sir Jules Thorn Trust). Prof Colin Johnson (PI), Prof David Bonthron, Prof Chris Inglehearn (Co-I), Dr Eamonn Sheridan, Dr Ruth Charlton and Prof Graham Taylor. 1.01.10 – 31.12.14.


Competitive fully funded PhD scholarships are available within the Faculty Graduate School.

Self-funded students are always welcomed to apply for postgraduate study. International students must meet the entry requirements for English. Bench fees are required.

Please email for informal enquiries.

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