BCMFF

There are many genetic mutations that can affect this group of genes leading to BCM [9,17,25,26,28,38,39]: a deletion of the LCR, intragenic deletion of exons within the genes OPN1LW and OPN1MW and a 2 steps mechanism with an homologous recombination and a punctual inactivation... The goal of gene therapy studies[15,16,23,51,59,61,62] is to virally supplement retinal cells expressing mutant genes associated with the Blue Cone Monochromacy phenotype with healthy forms of the gene; thus, allowing the repair and proper functioning of retinal photoreceptor cells in response to the instructions associated with the inserted healthy gene... There are three genes involved in Blue Cone Monochromacy, and are located at position Xq28, at the end of the q arm of the X chromosome.

Primary location: Jupiter United States