Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The
dysfunction of cilia causes diseases known as ciliopathies. The number of reported …

Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a
substantial proportion of patients, sequence information restricted to exons and exon–intron …

Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood
blindness. Photoreceptors are especially sensitive to an intronic mutation in the cilia-related …

X-linked retinopathies represent a significant proportion of monogenic retinal disease. They
include progressive and stationary conditions, with and without syndromic features. Many …

Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …

Purpose: Next-generation sequencing–based methods are being adopted broadly for
genetic diagnostic testing, but the performance characteristics of these techniques with …

Photoreceptors are sensory neurons designed to convert light stimuli into neurological
responses. This process, called phototransduction, takes place in the outer segments (OS) …

Inherited retinal diseases (IRDs) are a group of heterogeneous conditions that cause
progressive vision loss, typically due to monogenic mutations. Female carriers of X-linked …

Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of
blindness. They result from mutations in many genes which has long hampered …

Background: Gene therapy cannot be yet considered a far perspective, but a tangible
therapeutic option in the field of retinal diseases. Although still confined in experimental …