Achromatopsia: case presentation and literature review emphasising the value of spectral domain optical coherence tomography

作者：Yu Xiao Xi^*; Rego Robert E Jr; Shechtman Diana

来源：Clinical and Experimental Optometry, 2014, 97(6): 507-510.

DOI：10.1111/cxo.12175

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

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.

• 出版日期2014-11
• 单位东南大学