Finding the genes behind clefts in the eye and eyelid

Research details

  • Type of funding: Fight for Sight Small Grant Award
  • Grant Holder: Dr Mariya Moosajee
  • Institute: UCL Institute of Ophthalmology
  • Region: London
  • Start date: April 2015
  • End Date: March 2016
  • Priority: Causes
  • Eye Category: Childhood-onset


Ocular coloboma, eyelid coloboma and facial clefts are all rare conditions in which tissue in a developing embryo doesn’t completely fuse together. This can happen at around 5-7 weeks after conception.

Children with ocular-eyelid coloboma and facial clefts receive intensive treatment from birth, and have a number of surgical procedures. Scarring, visual disability, feeding and speech difficulties may have a life-long impact on both child and family, with significant psychological, social and health implications.

Affected families want to understand why these congenital disorders happen given an ordinary healthy pregnancy with no previous medical- or family history, but there isn’t enough information yet to give them a good answer.

In this project the team is studying the genetics of a groups of patients with various colobomas and facial clefts that happened without any obvious cause. They are looking for genetic glitches that might have happened spontaneously in the womb or for genetic variations that might have needed to be inherited from both parents for the conditions to occur.

Results from the study will help to give families more accurate information. They might also form the basis for developing treatment.
  • Research update

    The researchers identified three novel genes that may be the cause of these congenital defects and they are in the process of testing the function of these genes in various models to see if they are the actual cause. If they have identified universal clefting genes, this will have an immense impact on a large proportion of patients and enable screening of cohorts without genetic diagnosis.