Genetic ophthalmology

There is a long-standing expertise in genetics and ophthalmology and we investigate the genetic basis of disorders such as:

  • Glaucoma
  • Anophthalmia
  • Congenital cataract
  • Rretinal dystrophies

Important discoveries in their own right, these studies have also facilitated fundamental molecular exploration of the role of the encoded proteins in health and disease. We also undertake studies to improve the effectiveness of gene therapy in the eye.

Working as teams involving clinicians, scientists and genetic counsellors the highest level of clinical service for patients and families with childhood genetic disorders of vision (congenital cataract, childhood glaucoma and childhood corneal disease) and adult (retinal dystrophies) in provided.

Grants from the Department of Health and ocular charities have enabled the development of the requisite research technologies, such as microarrays and next generation sequencing to allow a molecular NHS-based diagnostic service for retinoblastoma and retinal dystrophies.