Publications by authors named "Michael D Petersen"
Article Synopsis
- Leber congenital amaurosis (LCA) is a severe retinal degeneration with two types: Type I (congenital stationary) and Type II (progressive rod-cone dystrophy), linked to specific genetic mutations.
- Out of twelve identified LCA genes, most are primarily expressed in the retina, with LCA5 and CEP290 associated with broader phenotypic variations beyond just retinal issues.
- This study found high expression levels of the SPATA7 gene in the retina, brain, and testis, identifying several SPATA7 mutations in LCA patients, suggesting a connection to rod-cone dystrophy specifically.
