Searching for genes causing corneal diseases
Dr Alice Davidson | GR000060
Corneal diseases that affect the transparent tissue at the front of the eye can cause visual impairment. We’re funding a PhD Studentship for a researcher to investigate the cause of two corneal diseases.
The cornea which is the transparent, dome-shaped surface that covers the front of the eye. Posterior polymorphous corneal dystrophy (PPCD) and iridocorneal endothelial (ICE) syndrom are two corneal diseases.
- Posterior polymorphous corneal dystrophy (PPCD) is a visually-impairing genetic disease that affects the cornea. Genetic mistakes termed ‘mutations’ in genes called OVOL2 and ZEB1 are the most common known causes of PPCD, but we do not currently understand their role in the normal cornea or how they cause disease.
- Iridocorneal endothelial (ICE) syndrome is another disease with corneal endothelial cell dysfunction that has features similar to PPCD.
Corneal transplantation is currently the only treatment option available for advanced stage PPCD and ICE syndrome but the long term survival of grafts is poor. Surgery also relies upon specialist facilities and healthy donor material, of which there is a currently a global shortage.
Funding a solution
The PhD student will collect tissue samples from patients with PPCD or ICE recruited at Moorfields Eye Hospital. These will be analysed to establish the potential genetic causes of disease.
The tissue samples will also be used to grow corneal tissue in the laboratory which can then be used to investigate how the diseases progress.
The research team will also use tissue removed during corneal transplant surgery to investigate potential viral causes of ICE syndrome and the genetic code of PPCD to elucidate the disease causing mechanisms associates of both conditions.
Outcomes and impact
It is anticipated that this PhD Studentship will result in the identification of new genetic cause(s) of PPCD.
This knowledge will facilitate appropriate genetic counselling and will inform the clinical management of patients. The team will also try to establish whether ICE syndrome can be attributed to genetic and/or viral causes.
Dr Alice Davidson
Corneal disease | Genetics | Inherited eye disorders