Humans rely on visual cues to navigate the world around them. Vision begins with the
detection of light by photoreceptor cells in the retina, a light-sensitive tissue located at the …

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

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

Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by
impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six …

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

Purpose Achromatopsia is a congenital autosomal recessive cone disorder, and it has been
found to be associated with six genes. However, pathogenic variants in these six genes …

Purpose: To identify the gene defect and to study the clinical characteristics and natural
course of disease in a family originally diagnosed with oligocone trichromacy (OT), a rare …

We assessed a large consanguineous Pakistani family (PKAB157) segregating early onset
low vision problems. Funduscopic and electroretinographic evaluation of affected …

Importance Mutations inCNGA3are the most common cause of achromatopsia and cone-rod
dystrophies. Objective To identifyCNGA3mutations in patients with cone dystrophies or …

Importance While older children and adults with achromatopsia have been studied, less is
known of young children with achromatopsia. Objectives To characterize the macular and …