Study uncovers new genetic cause of posterior polymorphous corneal dystrophy
A new genetic cause of corneal dystrophy has been discovered with funding from Fight for Sight by researchers at UCL Institute of Ophthalmology and Moorfields Eye Hospital London, in collaboration with colleagues in the Czech Republic.
Corneal endothelial dystrophies are a group of inherited eye disorders which affect the endothelium, a thin single layer of specialized cells that line the back of the cornea (front of the eye). The endothelium is vital in maintaining the transparency of the clear surface of the cornea. Corneal endothelial dystrophies can lead to severe sight loss or blindness. For patients who are severely affected, the only treatment currently available is a corneal transplant.
Posterior polymorphous corneal dystrophy (PPCD) is a rare autosomal-dominant form of corneal dystrophy which affects the corneal endothelium. In severe cases, corneal endothelium failure may occur and corneal transplantation is required to restore vision. For many patients with PPCD, the genetic faults are unknown.
The genetic cause of PPCD was discovered by Professor Alison Hardcastle, Dr Alice Davidson, and Mr Stephen Tuft at UCL Institute of Ophthalmology and Moorfields Eye Hospital through the use of a new technological advancement in the sequencing of the human genome.
In a landmark paper published in The American Journal of Human Genetics, the team pinpoints the location of a new PPCD gene and alterations in the DNA sequence that affect a gene called GRHL2. This gene is not expected to be expressed in the corneal endothelium but the team have shown that DNA changes cause the gene to be expressed inappropriately in the corneal endothelial cells. They have discovered that the endothelial cells have an ‘identity crisis’ and transition to a different state leading to dysfunction of the endothelial barrier and resulting in corneal dystrophy.
Professor Hardcastle, a Fight for Sight funded researcher, said:
Neil Meemaduma, Research Manager at Fight for Sight, said:
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