Dr Mervyn Thomas

Position: NIHR Academic Clinical LecturerMervyn_picture.jpg
Location: RKCSB, Room 516

Contact details:     
T: +44 116 252 5879
E: mt350@le.ac.uk

Research Interests

1. Mechanisms of abnormal retinal development and functional implications
2. Genetic mechanisms of nystagmus and foveal development
3. Developing novel treatments for nystagmus
4. Improving clinical care pathway in paediatric ophthalmology

Methods/TechniquesMT Examples.jpg

1. Next generation sequencing
2. Optical coherence tomography
3. Eye movement recordings
4. Bioinformatics


1. Thomas MG, et al. Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing. Eur J Hum Genet. 2017;25(6):725-734.

2. Thomas MG, et al. Abnormal retinal development associated with FRMD7 mutations. Hum Mol Genet. 2014;23(15):4086-4093.

3. Thomas MG, Gottlob I. Re: Sundaram et al.: retinal structure and function in achromatopsia: implications for gene therapy (Ophthalmology 2014;121:234-45). Ophthalmology. 2014;121(9):46.

4. Thomas S*, Thomas MG*, et al. Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation. Eur J Hum Genet. 2014;22(3):344-349. (*co-first author)

5. Watkins RJ, Patil R, Goult BT, Thomas MG, Gottlob I, Shackleton S. A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus. Hum Mol Genet. 2013;22(10):2105-2118.

6. Thomas MG, et al. Is high-resolution spectral domain optical coherence tomography reliable in nystagmus?. Br J Ophthalmol. 2013;97(4):534-536.

7. Thomas MG, et al. Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia. Br J Ophthalmol. 2012;96(9):1232-1236.

8. Thomas MG, et al. Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?. Ophthalmology. 2011;118(8):1653-1660.

9. Thomas MG, et al. The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. Brain. 2011;134(Pt 3):892-902.

10. Thomas MG, et al. Reading strategies in infantile nystagmus syndrome. Invest Ophthalmol Vis Sci. 2011;52(11):8156-8165.

11. Thomas MG, et al. High-resolution in vivo imaging in achromatopsia. Ophthalmology. 2011;118(5):882-887.

MT FRMD7 mutations.jpg


Optical coherence tomography related impact:

Developed a structural grading system using optical coherence tomography to assess different degrees of arrested retinal development (Thomas MG et al. Ophthalmology 2011) which can also be used to predict future visual acuity in infants and preverbal children

First study to show OCT can be used reliably in patients with nystagmus (Thomas MG et al. BJO 2011)

Identification of pathognomonic OCT sign in achromaptopsia and showed that progressive retinal changes can occur (Thomas MG et al. Ophthalmology 2011 and Thomas MG et al. BJO 2012)

Genetics related impact:

Together with Nottingham NHS genetics lab and Professor Irene Gottlob established the first NHS genetic test for infantile nystagmus (FRMD7 testing on the NHS)

Identification of the genetic basis of periodic alternating nystagmus (Thomas MG et al. Brain 2011)

Developed the first next generation sequencing gene panel for infantile nystagmus (Thomas MG et al. EJHG 2017)

Diagnostic pathways for infantile nystagmus using next generation sequencing (Thomas MG et al. EJHG 2017)

MT Diagnostic workflow.jpg


  • Optical coherence tomography
  • Nystagmus
  • Retinal development
  • Foveal hypoplasia
  • Next generation sequencing


Elizabeth Engle (Harvard Medical School, USA)
Bart Leroy (Children’s Hospital of Philadelphia, USA)
Susanne Kohl (University of Tübingen, Germany)
Anthony Moore (University California San Francisco, USA)
Will Norton (University of Leicester, UK)
Nic Sylvius (University of Leicester, UK)
Cris Constantinescu (University of Nottingham, UK)
Shery Thomas (University of Nottingham, UK)
Susan Lindsay (Newcastle University, UK)
Masasuke Araki (Nara University, Japan)
Stephan Neuhauss (University of Zurich, Switzerland)
Melody Huang (University Hospital Zurich, Switzerland)


Title: Predicting future vision in infants and young children with nystagmus using optical coherence tomography and eye movement recordings (2018-2019)
Funding body: Fight for Sight

Title: Improving the genetic diagnosis of infantile nystagmus (2017-2018)
Funding body: Fight for Sight

Title: Clinical implication and biological function of the novel FRMD7 gene (2008-2011)
Funding body: National Eye Research Centre

Title: Spatial and temporal expression profile of FRMD7 in neuronal tissue provides clues for pathogenesis and treatment
Funding body: ARVO

Title: Fixational and foveation strategies in nystagmus (2008)
Funding body: Wellcome Trust

Title: Reading strategies in nystagmus (2007-2008)
Funding body: Wolfson Foundation

Title: Trafficking of ATP-sensitive Potassium Channels (2006)
Funding body: Wellcome Trust

MembershipsMT Expression of FRMD7.jpg

General Medical Council
Royal College of Ophthalmology

The Association for Research in Vision and OphthalmologyEuropean Paediatric Ophthalmology Society

MT Foveal hypoplasia grading.jpg


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T: +44 (0)116 252 2922
E: npbenquiries@le.ac.uk


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