Publications by authors named "Emilie Merce"
We treated 26 eyes of 25 young patients having a mean age of 30 years with intravitreal vascular endothelial growth factor (VEGF) inhibitor for choroidal new vessel (CNV) formation overlying choroidal osteoma over a mean follow-up of 26 months. Mean number of injections was 2.4 at 6 months, 3.
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- 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.