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.

Key words:

• achromatopsia
• congenital
• optical coherence tomography
• rod monochromat
• cone dystrophy