A review of Leber amorrhosis and its treatment

The disease (LCA) is a genetic hereditary disease that primarily affects the retina, and oneout of every ۴۰,۰۰۰ babies born has been affected by this disease.This disease is a disorder of the optic nerve of the eye and leads to blindness.The first disease-causing gene was identified in the LCA۱ chromosome in ۱۹۹۵.LCA disease starts with reduced vision and blurred vision and eventually leads to blindness.Also, in rare cases, delayed growth and mental retardation have been reported in peoplewith Leber amaurosis symptoms.Leber congenital amaurosis can be caused by mutations in at least ۱۴ genes, including AIPL۱,CEP۲۹۰, CRB۱, CRX, GUCY۲D, IMPDH۱, IQCB۱, LCA۵, LRAT, NMNAT۱, RD۳, RDH۱۲, RPE۶۵,RPGRIP۱, SPATA۷, TULP۱, all of which are necessary for normal vision.The most common cause of this abnormality is mutation in CEP۲۹۰, CRB۱, GUCY۲D, AIPL۱and RPE۶۵ genes, while in general, mutations in other genes include a smaller percentage ofcases.The presence of AIPL۱ gene mutations is the cause of about ۷% of Leber congenitalamaurosis patients.According to recent research, the two mentioned mutations also cause this disease.Nucleotide deletion mutation c. ۱۲۶۴delC and point mutation c. Both ۲۱۱۶C>T wereidentified as homozygous in GUCY۲D gene in patients.One of the treatment methods for LCA۲ was the gene therapy method using adeno virus,which was performed on animals, and in this method, performance and vision have beenimproved.Another treatment method that has been offered recently is the treatment through theCrisper system.During this experiment, a specific dose of the drug AGN_۱۵۱۵۸۷ was administered to thepatient through an eye injection.According to recent reports, different doses of this drug have been administered to ۱۸patients, but there has been no news from the researchers regarding the treatment of thisdisease through the CRISPR system.It is hoped that with the help of this system, it will be possible to help in the definitivetreatment of Leber amourosis.

Keywords:

LCA , treatment , gene