Achromatopsia (ACHM) is an autosomal recessive disorder characterized by color blindness,
photophobia, nystagmus and severely reduced visual acuity. Using homozygosity …

Importance Achromatopsia linked to variations in theCNGA3gene is associated with day
blindness, poor visual acuity, photophobia, and involuntary eye movements owing to lack of …

Retinitis pigmentosa (RP) is a group of genetically heterogeneous, severe retinal diseases
commonly leading to legal blindness. Mutations in the CNGB1a subunit of the rod cyclic …

Development in the central nervous system is highly dependent on the regulation of the
switch from progenitor cell proliferation to differentiation, but the molecular and cellular events …

In humans, the Crumbs homolog-1 (CRB1) gene is mutated in progressive types of autosomal
recessive retinitis pigmentosa and Leber congenital amaurosis. However, there is no …

The peroxisome proliferator-activated receptor γ coactivator 1 (PGC-1) proteins are key
regulators of cellular bioenergetics and are accordingly expressed in tissues with a high …

Mutations in the CRB1 gene lead to retinal dystrophies ranging from Leber congenital amaurosis
(LCA) to early-onset retinitis pigmentosa (RP), due to developmental defects or loss of …

In humans, the Crumbs homolog-1 (CRB1) gene is mutated in autosomal recessive Leber
congenital amaurosis and early-onset retinitis pigmentosa. In mammals, the Crumbs family is …

Mutations in the CACNA1F gene encoding the Cav1.4 Ca 2+ channel are associated with X-linked
congenital stationary night blindness type 2 (CSNB2). Despite the increasing …

Clinical trials demonstrated that co-targeting angiopoietin-2 (Ang-2) and vascular endothelial
growth factor (VEGF-A) with faricimab controls anatomic outcomes and maintains vision …