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

Authors
  • Yu, Xiao Xi
  • Rego, Robert E Jr
  • Shechtman, Diana
Type
Published Article
Journal
Clinical & experimental optometry
Publication Date
Nov 01, 2014
Volume
97
Issue
6
Pages
507–510
Identifiers
DOI: 10.1111/cxo.12175
PMID: 24995800
Source
Medline
Keywords
License
Unknown

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.

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