Genetics of Corneal Disease for the Ocular Surface Clinician

Advances in the understanding of inherited corneal and external diseases may allow interventions that prevent the substantial vision impairment currently caused by these diseases. The observant clinician may first recognize inherited corneal and external diseases based on clinical examination and a careful family history. Researchers using positional cloning and candidate gene techniques have identified several disease-causing genes. Identification of the genes responsible for inherited corneal and external diseases will lead to more definitive diagnoses and represent the first step in development of effective therapies. Future endeavors are directed toward identifying additional inherited corneal and external diseases, the genes that cause them, and possible gene therapies to improve visual outcomes.