Several heritable diseases of the cornea known as corneal dystrophies are caused by mutations within the human genome. With the advent of genetic sequencing, it is possible to link most corneal dystrophies to a specific gene mutation.1 While Transforming Growth Factor Beta I (TGFBI) is the most studied gene, with over 60 documented single point mutations,2 without sequencing the patient’s DNA it is difficult to determine if mutations within TGFBI are causal when a patient has symptoms of the disease.
Several heritable diseases of the cornea known as corneal dystrophies are caused by mutations within the human genome. With the advent of genetic sequencing, it is possible to link most corneal dystrophies to a specific gene mutation.1 While Transforming Growth Factor Beta I (TGFBI) is the most studied gene, with over 60 documented single point mutations,2 without sequencing the patient’s DNA it is difficult to determine if mutations within TGFBI are causal when a patient has symptoms of the disease.