… the rod specific cyclic guanosine monophosphate (cGMP) … early onset of night blindness
and retinal degeneration [32]. … animal has a severe phenotype of cone-led retinal dystrophy …

… Col8a2 mutation in the early-onset FECD mouse model. A single … -trans-retinal (atRAL) from
the photoreceptor outer segment … LCA is a severe retinal dystrophy that manifests at birth or …

… and photoreceptor layers in the peripheral and central retinas (… compound heterozygous.
Four patients were compound … , in most cases, the early onset around the second decade of life …

… The disease manifests with early-onset nyctalopia, followed by … rod photoreceptor cyclic
guanosine monophosphate (cGMP) … in PDE6A do not cause retinal dystrophy in only humans. …

… Rod and cone photoreceptors are light-sensitive retinal cells … Another prevalent cause of
early-onset retinal dystrophy is … compound heterozygous mutations in the rod–cone dystrophy-…

… gene is an early-onset photoreceptor dystrophy characterized by … with a heterozygous or
homozygous IVS26 mutation [20]. … -CMV-MYO7A) in deficient mice led to increased myosin VIIa …

… early-onset monogenic macular diseases. One such disease is ML, a rare macular dystrophy
… in turn iii) activates cyclic guanosine monophosphate (cGMP) phosphodiesterase (PDE) …

… retinal photoreceptors leading to progressive visual decline. It is the most common type of
inherited retinal dystrophy … TULP1 mutation causes early-onset retinal degeneration, although …

… , primarily involving photoreceptors, retinal pigment epithelium (RPE), … , including early-onset
severe retinal dystrophy (EOSRD), … degeneration in males, whereas heterozygous female …

… In patient A, we identified two heterozygous putative loss-of-… ciliary compartment of the
photoreceptors to perform their function… amaurosis or early-onset severe retinal dystrophy. Genes (…