Progressive cone and cone-rod dystrophies are a clinically and genetically heterogeneous
group of inherited retinal diseases characterised by cone photoreceptor degeneration …

Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and children. The scope of this review is to familiarise clinicians and scientists …

Hereditary retinal blindness is caused by mutations in genes expressed in photoreceptors or
retinal pigment epithelium. Gene therapy in mouse and dog models of a primary retinal …

Mutations in CEP290, a transition zone protein in primary cilia, cause diverse ciliopathies,
including Leber congenital amaurosis (LCA) and Joubert-syndrome and related disorders …

Mammalian photoreceptors contain specialised connecting cilia that connect the inner (IS) to
the outer segments (OS). Dysfunction of the connecting cilia due to mutations in ciliary …

Cone photoreceptors are required for color discrimination and high-resolution central vision
and are lost in macular degenerations, cone and cone/rod dystrophies. Cone transplantation …

Homozygosity mapping and exome sequencing have accelerated the discovery of gene
mutations and modifier alleles implicated in inherited retinal degeneration in humans. To …

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 …

Primary ciliary dyskinesia (PCD) is a ciliopathy, but represents the sole entity from this class
of disorders that results from the dysfunction of motile cilia. Characterized by respiratory …

Primary cilia are microtubule-based organelles found in most mammalian cell types. Cilia
act as sensory organelles that transmit extracellular clues into intracellular signals for …