Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or
severe visual impairment before the age of 1 year. Linkage analysis, homozygosity mapping …

Nonsyndromic recessive retinal dystrophies cause severe visual impairment due to the
death of photoreceptor and retinal pigment epithelium cells. These diseases until recently …

Usher syndrome type IIA (USH2A), characterized by progressive photoreceptor
degeneration and congenital moderate hearing loss, is the most common subtype of Usher …

For over 30 years, photoreceptors have been an outstanding model system for elucidating
basic principles in sensory transduction and G protein signaling. Recently, photoreceptors …

Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or
retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone …

Inherited retinal degeneration (RD) leads to the impairment or loss of vision in millions of
individuals worldwide, most frequently due to the loss of photoreceptor (PR) cells. Animal …

Leber congenital amaurosis type 4 (LCA4), caused by AIPL1 mutations, is characterized by
severe sight impairment in infancy and rapidly progressing degeneration of photoreceptor …

The striated ciliary rootlet is a prominent cytoskeleton originating from basal bodies of
ciliated cells. Although a familiar structure in cell biology, its function has remained …

Background Peptidyl prolyl cis/trans isomerases (PPIases) assist the folding and
restructuring of client proteins by catalysis of the slow rotational motion of peptide bonds …

Defects in the photoreceptor-specific gene encoding aryl hydrocarbon receptor-interacting
protein-like 1 (AIPL1) are clinically heterogeneous and present as Leber Congenital …