IMPROVEMENTS IN AND RELATING TO TREATMENTS FOR EYE DISEASE

摘要

The invention relates generally to the OPA1 gene, including variants thereof, as well as their transcripts and gene products. OPA1 is involved in the disease process of autosomal dominant optic atrophy. The present invention also relates to methods of screening for and detection of carriers of a defective OPA1 gene, diagnosis of a defective OPA1 gene, prenatal OPA1 gene defect screening and detection, gene therapy utilising recombinant technologies and drug therapy using the information derived from the gene, protein, and the metabolic function of the protein.