Background Mutations in RPE65 cause Leber's congenital amaurosis, a progressive retinal
degenerative disease that severely impairs sight in children. Gene therapy can result in …

Retinoid dehydrogenases/reductases catalyze key oxidation–reduction reactions in the
visual cycle that converts vitamin A to 11-cis retinal, the chromophore of the rod and cone …

purpose. Mutations in the MERTK gene are responsible for retinal degeneration in the Royal
College of Surgeons (RCS) rat and are a cause of human autosomal recessive retinitis …

The retinal pigment epithelium (RPE) is a polarized monolayer that secretes growth factors
and cytokines towards the retina apically and the choroid basolaterally. Numerous RPE …

Retinal degenerative diseases, such as retinitis pigmentosa and Leber congenital
amaurosis, are a leading cause of untreatable blindness with substantive impact on the …

RDH12 mutations are responsible for early-onset autosomal recessive retinal dystrophy,
which results in profound retinal pathology and severe visual handicap in patients. To …

RDH12 codes for a member of the family of short-chain alcohol dehydrogenases/reductases
proposed to function in the visual cycle that supplies the chromophore 11-cis retinal to …

Background Defects in retinol dehydrogenase 12 (RDH12) account for 3.4%–10.5% of
Leber congenital amaurosis and early-onset severe retinal dystrophy (EOSRD) and are a …

Purpose.: To assess the survival of rod precursor cells transplanted into the Rd9 mouse, a
model of X-linked retinal degeneration, and the effect of antiapoptotic therapy with X-linked …

Early-onset severe retinal dystrophy (EOSRD) is a genetically heterogeneous group of
diseases resulting in serious visual disability in children. A significant number of EOSRD …