title: Achromatopsia: case presentation and literature review emphasising the value of spectral domain optical coherence tomography.
abstract: A literature review and case presentation are used to discuss the diagnostic value of spectral domain optical coherence tomography (SD-OCT) in the assessment and management of congenital achromatopsia. A 24-year-old Hispanic man presented to the clinic with a longstanding history of decreased vision and associated possible recent progression. A comprehensive eye examination and a battery of tests including SD-OCT, fundus photography, electroretinogram (ERG) and Farnsworth D-15 were completed. SD-OCT and photopic ERG confirmed the clinical diagnosis of congenital achromatopsia. There was the classic subfoveal flattened hyporeflective 'punched out' zone, resulting from an absence of inner segment/outer segment junction. SD-OCT findings associated with congenital achromatopsia have been documented recently, helping in the diagnosis of the condition. The SD-OCT findings have further expanded our knowledge of congenital achromatopsia, while also aiding in the management of the disease.
authors.affiliation: Nova Southeastern University, Fort Lauderdale, Florida, USA. xyu@nova.edu.
authors.forename: Xiao Xi
authors.initials: XX
authors.lastname: Yu
authors.forename: Robert E
authors.initials: RE
authors.lastname: Rego
authors.forename: Diana
authors.initials: D
authors.lastname: Shechtman
mesh_terms: D055253:Color Vision; D003117:Color Vision Defects / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005584:Fovea Centralis / Q000473:pathology*; D006801:Humans; D008297:Male; D015203:Reproducibility of Results; D041623:Tomography, Optical Coherence / Q000379:methods*; D055815:Young Adult
keywords: achromatopsia; cone dystrophy; congenital; optical coherence tomography; rod monochromat