Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies
characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading …

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

Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant
social and professional consequences. Molecular genetic information is invaluable for an …

Abstract The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of
non-motile ciliopathy. It is in fact caused by mutations of genes encoding for proteins mainly …

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is
characterized by heterogeneous clinical manifestations including primary features of the …

Bardet‐Biedl syndrome (BBS) is a recessive genetic disease causing multiple organ
anomalies. Most patients carry mutations in genes encoding for the subunits of the BBSome …

We aimed to unravel the molecular genetic basis of inherited retinal degeneration (IRD) in a
comprehensive cohort of patients diagnosed in the largest center for IRD in Germany. A …

Primary cilia are sensory organelles present on most mammalian cells. The assembly and
maintenance of primary cilia are facilitated by intraflagellar transport (IFT), a bidirectional …

The BBSome is a heterooctameric protein complex that plays a central role in primary cilia
homeostasis. Its malfunction causes the severe ciliopathy Bardet-Biedl syndrome (BBS). The …

Background Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are
inherited retinal diseases that cause early onset severe visual impairment. An accurate …