Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of
disorders characterised by photoreceptor degeneration or dysfunction. These disorders …

Background: Gene therapy cannot be yet considered a far perspective, but a tangible
therapeutic option in the field of retinal diseases. Although still confined in experimental …

The successful restoration of visual function with recombinant adeno-associated virus
(rAAV)-mediated gene replacement therapy in animals and humans with an inherited …

The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly
stationary retinal disorders characterised by reduced central vision and varying degrees of …

Congenital absence of cone photoreceptor function is associated with strongly impaired
daylight vision and loss of color discrimination in human achromatopsia. Here, we introduce …

Cone photoreceptor disorders form a clinical spectrum of diseases that include progressive
cone dystrophy (CD) and complete and incomplete achromatopsia (ACHM). The underlying …

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

Mutations in the CNGB3 gene account for> 50% of all known cases of achromatopsia.
Although of early onset, its stationary character and the potential for rapid assessment of …

Inherited retinal degenerations are a common cause of untreatable blindness worldwide,
with retinitis pigmentosa and cone dystrophy affecting approximately 1 in 3500 and 1 in …

Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity,
impaired colour vision, photophobia and nystagmus. The symptoms can be profoundly …