The Potential Cure for Rare Childhood Blindness

 

Cassidy DeMasi 

12/9/2025

Dr/ Barbato

   The Potential Cure for Rare Childhood Blindness

Leber Congenital Amaurosis, also known as LCA inherited genetic eye malfunction causing blindness at birth. It is mostly autosomal recessive.  It's the most common cause of childhood blindness. This is caused by the failure of photoreceptors to develop and function appropriately in the retina. Symptoms of LCA include rapid eye movements, poor response to light, and occasionally eye poking. 

LCA1 is rare and only affects under 5,000 people across Europe and the US. So the attention level on this problem is not as high as that of other issues, such as cancer. However, it is the largest reason for childhood blindness, and by continuing to do research on this issue, we give those with this mutation a voice. The University of Florida did a small clinical study on this that involved a surgical injection into the retina of an eye, which prohibited the LCA gene from being activated. The text states, "The study enrolled 15 subjects for treatment at the University of Pennsylvania or Oregon Health and Science University. Subjects received one of three different doses of the therapy to identify the safest and most effective dose for future trials. All patients received the treatment in one eye, which involved a surgical injection in the retina. Researchers followed the patients for a year to test their vision in the treated eye compared to the untreated eye. Subjects who received higher doses saw greater improvements in their vision, " (Gene Therapy Restores Vision in First-Ever Trial for Rare, Inherited Blindness, 2019). This is such an important understanding because this research could potentially lead to more research on eyesight, allowing other methods of science to understand a potential cure to blindness

Resources

What is Leber Congenital Amaurosis? (2017). Foundation Fighting Blindness. https://www.fightingblindness.org/diseases/leber-congenital-amaurosis-lca?gad_source=1&gad_campaignid=3569935&gbraid=0AAAAAD_ZajGYKCJ44UPHG3rPLEPJz67ZW&gclid=Cj0KCQiA9OnJBhD-ARIsAPV51xOO6O1OSZZhVI1XK09nuYpaMXfU9b2uET6-Aq7iURw5_kXNBUWmNwcaAkT9EALw_wc

Gene therapy 

restores vision in first-ever trial for rare, inherited blindness. (2019). Ufl.edu. https://news.ufl.edu/2024/09/blindness-gene-therapy/