Leber Congenital Amaurosis (LCA) is an inherited retinal disease leading to severe vision impairment from early infancy, affecting 2-3 out of every 100,000 newborns. LCA is caused by variants in certain genes from which proteins essential for retinal cell function and survival are made. Mutations in over 20 different genes can cause LCA and in each of those genes, hundreds of different changes, known as genetic variants, can occur.  Importantly, while some of these genetic variants are benign and do not compromise function, other variants cause dysfunction or complete loss of function. Further, for some of these variants, which are called variants of uncertain significance (VUS), it is currently not known if they are disease causing or benign. 

Platelets are small, disc-shaped cell fragments in the blood that are essential to stop bleeding and to initiate blood clotting after injury. Platelet transfusions in patients with severe trauma or medical conditions, including bone marrow disease, leukemia, or sepsis, can be lifesaving. Despite being a standard clinical practice, platelet transfusions face issues related to the availability of blood donations from which platelets are isolated, the relatively short shelf life of purified platelets, and the risk of an immune response in patients receiving platelets from unmatched donors.