Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature

Achromatopsia is an inherited retinal disease that affects the cone cell function. It is a genetic dysfunction of all types of cones1 and is usually an autosomal-recessive disease that affects 1:30,000 to 1:50,000 births. It is characterized by presentation at birth or early infancy with pendular nystagmus, poor visual acuity, lack of color vision, and marked photophobia.2,3 The clinical signs and symptoms of achromatopsia vary. Typical clinical presentation includes photophobia, pendular nystagmus, poor visual acuity, and color vision deficiency, among others. These symptoms usually start at

Source: Journal of Pediatric Ophthalmology and Strabismus - March 16, 2018 Category: Opthalmology Authors: Isabel Pascual-Camps, MD, PhD Source Type: research