The invention provides a primer probe for diagnosing corneal dystrophy caused by mutation of a site 124 of a human TGFbetaI gene. The primer probe comprises a specific primer designed for the site 124of the TGFbetaI gene, a specific wild type Taqman fluorescent probe for a wild type site R124, and at least one of four specific mutation type Taqman fluorescent probes for mutation type sites C124,S124, H124 and L124, wherein each probe is connected with a different fluorescent report group, so as to collect different fluorescent signals to detect, and internal references are not added. The invention further provides a primer probe-based detection method for mutation of the site 124 of the human TGFbetaI gene. The detection method has advantages of being highly sensitive, highly specific, being not easy to contaminate, being highly accurate, and being convenient and quick, and is applicable to clinical case analysis and inspection work.