Avellino corneal dystrophy(ACD) is one of corneal genetic abnormalities leading serious eye problems such as blindness. TGFB1 R124H(c.3716)A) is known as a genetic risk factor of ACD. Homozygote R124H presents early onset of ACD and severe corneal opacities resulting in visual impairment since childhood. Heterozygote shows a late onset and mild corneal deposits. However, eye surgery such as LASIK can accelerate the onset of the disease in people with heterozygous R124H mutation. Therefore, in Korea, R124H genotyping is strongly recommended before eye surgery.
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