Programmable genome integration of large, diverse DNA cargo without DNA repair of
exposed DNA double-strand breaks remains an unsolved challenge in genome editing. We …

Leber's congenital amaurosis (LCA), one of the most severe inherited retinal dystrophies, is
typically associated with extremely early onset of visual loss, nystagmus, and amaurotic …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

Abstract Background Inherited retinal degenerations (IRDs) are a group of rare genetic
conditions affecting retina of the eye that range in prevalence from 1 in 2000 to 1 in 4000 …

Background Cone and cone-rod dystrophies are clinically and genetically heterogeneous
inherited retinal disorders with predominant cone impairment. They should be distinguished …

Purpose.: Leber congenital amaurosis (LCA) is an inherited retinal disease that causes early-
onset severe visual impairment. To evaluate the mutation spectrum in the Chinese …

Current gene editing approaches in eukaryotic cells are limited to single base edits or small
DNA insertions and deletions, and remain encumbered by unintended permanent effects …

Background Leber congenital amaurosis (LCA) is a severe visual impairment responsible
for infantile blindness, representing~ 5% of all inherited retinal dystrophies. LCA …

Purpose: To describe the retinal phenotype of pediatric patients with mutations in the retinol
dehydrogenase 12 (RDH12) gene. Methods: Twenty-one patients from 14 families (ages 2 …

Over one hundred diseases related to inherited defects of complex lipids synthesis and
remodeling are now reported. Most of them were described within the last 5 years. New …