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

Due to improved phenoty** and genetic characterization, the field of 'incurable'and
'blinding'inherited retinal diseases (IRDs) has moved substantially forward. Decades of …

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

Inherited retinal diseases (IRDs) are a genetically variable collection of devastating
disorders that lead to significant visual impairment. Advances in genetic characterization …

Aims To determine long-term safety and efficacy outcomes of a subretinal gene therapy for
CNGA3-associated achromatopsia. We present data from an open-label, nonrandomised …

Purpose To assess the safety and efficacy of AAV8-hCARp. hCNGB3 in participants with
CNGB3-associated achromatopsia (ACHM). Design Prospective, phase 1/2 …

The full-field stimulus threshold (FST) is a psychophysical measure of whole-field retinal
light sensitivity. It can assess residual visual function in patients with severe retinal disease …

Achromatopsia is a rare congenital cause of vision loss due to isolated cone photoreceptor
dysfunction. The most common underlying genetic mutations are autosomal recessive …

Purpose: To investigate retinal structure in subjects with CNGA3-associated achromatopsia
and evaluate disease symmetry and intrafamilial variability. Methods: Thirty-eight …

Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased
sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or …