Objective
To investigate the disease-causing gene of Stargardt disease.
Method
Fifteen patients with Stargardt disease were analyzed with 11 primers of the 11 exons of ABCR gene by using PCR-SSCP and DNA direct sequencing techniques.
Results
Three newly detected disease-causing mutations were found. Among those mutations, one is a frameshift mutation and others are single base transition.
Conclusion
This research confirmed that ABCR gene is associated with Stargardt disease, and 3 new mutations of ABCR gene were found.
(Chin J Ocul Fundus Dis,2000,16:240-243)
