A new genetic cause of inherited disorder, corneal dystrophy, has been discovered by researchers at the UCL Institute of Ophthalmology and Moorfields Eye Hospital, in collaboration with scientists in the Czech Republic.
In the paper, published in the American Journal of Human Genetics, researchers found that alterations in the DNA sequence which affected regulation the OVOL2 gene in over 100 individuals with congenital hereditary corneal dystrophy and posterior polymorphous corneal dystrophy. The more severely affected individuals had symptoms at birth, with corneal haze evident as early as 12 months old. These individuals almost always required corneal transplantation surgery.
It was hoped that the discovery would allow further studies to understand the biological processes leading to corneal dystrophy and to develop new treatments, with the future hope of replacing the need for corneal transplants in this group of patients.
The research team was led by Professor Alison Hardcastle and Stephen Tuft at UCL Institute of Ophthalmology and Moorfields Eye Hospital and the associated National Institute for Health Research Biomedical Research Centre. They used technological advances in sequencing the human genome to discover the genetic cause.
Professor Hardcastle said: ‘It was a challenge to identify the DNA alterations causing these conditions because they influence how the OVOL2 gene is regulated, rather than affecting the “coding” sequence of the gene like most other changes in previously identified genes implicated in eye conditions.’