Small-molecule and protein/antibody drugs mainly act on genome-derived proteins to exert
pharmacological effects. RNA based therapies hold the promise to expand the range of …

With the identification of novel targets, the number of interventional clinical trials in
ophthalmology has increased. Visual acuity has for a long time been considered the gold …

Background CEP290-associated inherited retinal degeneration causes severe early-onset
vision loss due to pathogenic variants in CEP290. EDIT-101 is a clustered regularly …

Photoreceptor ciliopathies constitute the most common molecular mechanism of the
childhood blindness Leber congenital amaurosis. Ten patients with Leber congenital …

Leber congenital amaurosis type 10 (LCA10) is a severe inherited retinal dystrophy
associated with mutations in CEP290. The deep intronic c. 2991+ 1655A> G mutation in …

The primary cilium is a ubiquitous microtubule-based organelle that senses external
environment and modulates diverse signaling pathways in different cell types and tissues …

Leber congenital amaurosis (LCA) is a severe congenital/early-onset retinal dystrophy.
Given its monogenic nature and the immunological and anatomical privileges of the eye …

Disease mechanisms have become better understood in previously incurable forms of early-
onset severe retinal dystrophy, such as Leber congenital amaurosis (LCA). This has led to …

Leber congenital amaurosis due to CEP290 ciliopathy is being explored by treatment with
the antisense oligonucleotide (AON) sepofarsen. One patient who was part of a larger cohort …

Purpose: Leber congenital amaurosis due to CEP290 mutations (LCA10) is an inherited
retinal disease that often results in severe visual impairment or blindness in early childhood …