Ciliopathies comprise a group of disorders associated with genetic mutations encoding
defective proteins, which result in either abnormal formation or function of cilia. As cilia are a …

Ciliopathies encompass a broad array of clinical findings associated with genetic defects in
biogenesis and/or function of the primary cilium, a ubiquitous organelle involved in the …

Leber congenital amaurosis (LCA), a severe autosomal recessive childhood blindness, is
caused by mutations in at least 15 genes. The most common molecular form is a ciliopathy …

Retinitis pigmentosa (RP) is a class of diseases that leads to progressive degeneration of
the retina. Experimental approaches to gene therapy for the treatment of inherited retinal …

Defects in biogenesis or function (s) of primary cilia are associated with numerous inherited
disorders (called ciliopathies) that may include retinal degeneration phenotype. The cilia …

The rod and cone photoreceptor cells of the vertebrate retina have highly specialized
structures that enable them to carry out their function of light detection over a broad range of …

Senior–Løken syndrome (SLS) is an autosomal recessive disease characterized by
development of a retinitis pigmentosa (RP)-or Leber congenital amaurosis (LCA)-like retinal …

RPGR gene encodes retinitis pigmentosa guanosine triphosphatase regulator protein,
mutations of which cause 70% of the X‐linked retinitis pigmentosa (XLRP) cases. Rarely …

Photoreceptors are polarized neurons, with very specific subcellular compartmentalization
and unique requirements for protein expression and trafficking. Each photoreceptor contains …

Retinitis pigmentosa is a retinal degeneration transmitted by varied modes of inheritance
and affects approximately 1 in 4000 individuals. The photoreceptors of the outer retina, as …