Gene discovery could aid corneal dystrophy research

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.