The role of the LMX1B gene in the risk of glaucoma

Research details

  • Type of funding: PhD Studentship
  • Grant Holder: Dr Jane Sowden
  • Institute: UCL Institute of Child Health
  • Region: London
  • Start date: October 2010
  • End Date: January 2015
  • Priority: Early detection
  • Eye Category: Glaucoma


Glaucoma is a leading cause of blindness. Even though the condition affects people all over the world, we still don’t know a lot about why some people get glaucoma and others don’t. Age, ethnicity and family history are all factors thought to play a role in developing glaucoma but there is an urgent need to know more.

There is strong evidence that risk of getting glaucoma is linked to the genes a person carries.  In this project the research student will try to identify the role of genes in glaucoma. They will also look at how genes can influence the glaucoma by finding out which body molecules are involved in the condition and when. They will follow the path these molecules take to see how they are linked to eye damage.

The early stages of glaucoma can be painless. This means that the eye can be damaged long before glaucoma is diagnosed. Learning more about how genes influence glaucoma will help scientists to target new therapies. It will also help with development of new genetic tests to find people most at risk of glaucoma before they lose their sight. Genetic tests could also be used to decide which therapy is the right one for each person with glaucoma.

  • Scientific summary

    Investigating the molecular mechanisms that cause glaucoma: the LMX1B pathway

    Glaucoma is a major cause of blindness worldwide. There is a need for better understanding of the molecular basis of the pathology, and to identify individuals at risk of developing the condition, so that early and effective treatment can prevent visual loss. There is strong evidence that glaucoma susceptibility is genetically determined; however, for the majority of cases of the most common subset of glaucoma, primary open angle glaucoma, the underlying risk factors and molecular targets for therapeutic interventions remain to be identified. Mutations in a number of genes involved in development of the anterior segment of the eye, including the transcription factor LMX1B, are associated with an increased incidence of glaucoma. This study aims to investigate the genetic pathways regulated by LMX1B that are likely to have a role in correct development and function of anterior segment structures that maintain normal intraocular pressure. Genes identified as being regulated by LMX1B and expressed in sites of aqueous drainage and production will present as factors involved in common pathways of glaucoma aetiology. Knowledge of these factors will increase understanding of the molecular mechanisms contributing to glaucoma and provide the opportunity to devise genetic tests to identify individuals at risk for glaucoma or responses to particular therapies.

  • Research update

    In this project the team studied human cells from a part of the eye known as the ‘trabecular meshwork’. It’s in the angle between the coloured part of the eye (the iris) and the clear front surface of the eye (the cornea) and is vital for controlling pressure in the eye and preventing glaucoma. They investigated the processes that happen inside trabecular meshwork cells under the control of the gene LMX1B – one of the genes that can increase the risk of glaucoma if it’s faulty. Results found several genes and processes that could help us understand more about glaucoma and its risks, or become targets for treatment in future.

  • Publications