A Cure to Blindness Could be Your Genes

 

A recent clinical trial published in The Lancet found evidence that a new gene therapy may dramatically restore vision in children and adults with Leber Congenital Amaurosis.

Leber Congenital Amaurosis is a rare inherited condition caused by mutations in the GUCY2D gene.
This gene plays a critical role in producing the proteins that allow photoreceptor cells in the eye to detect light. Thus, when it malfunctions, vision deteriorates rapidly and it often begins in early childhood.

The study showed that patients receiving the gene therapy, called ATSN-101, experienced vision improvements ranging from 100-fold to as high as 10,000-fold, in some cases even allowing individuals who once required bright indoor lighting to navigate the outdoors under just moonlight. These findings suggest that gene therapy may be capable of restoring significant sight even after decades of severe visual impairment.

While these early results highlight the potential for gene therapy to address congenital blindness, researchers emphasize that larger and longer-term studies are still needed. Future work will focus on determining how durable these improvements are, how early in life treatment should be administered, and whether or not this approach can be expanded to other forms of inherited retinal degeneration.

News Article Source: https://www.usnews.com/news/health-news/articles/2024-09-06/gene-therapy-reverses-a-rare-cause-of-vision-loss

More on LCA Illnesses: https://www.asrs.org/patients/retinal-diseases/37/leber-congenital-amaurosis-lca

Is Glaucoma Genetic?

 

While many disagree, most scientists and doctors believe that the two biggest eye conditions, age-related macular degeneration and glaucoma have some correlation to genetics. Glaucoma is a disease that causes harm to the optic nerve and while there are many types of glaucoma, congenital glaucoma is caused by a mutation in two genes, CYP1B1 or LTBP2. Thus, mutations in these genes can lead to this condition being inherited in an autosomal recessive fashion, in which both parents would be carriers of the mutation but do not have glaucoma. While I do believe that this condition can be genetic, from the research I've done, I also firmly believe that this could be environmental as well. 

Sources: https://www.brightfocus.org/glaucoma/article/glaucoma-what-your-genetic-risk#:~:text=For%20example%2C%20we%20know%20that,but%20do%20not%20have%20glaucoma.