Document Detail

Achromatopsia: case presentation and literature review emphasising the value of spectral domain optical coherence tomography.
MedLine Citation:
PMID:  24995800     Owner:  NLM     Status:  Publisher    
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.
Xiao Xi Yu; Robert E Rego; Diana Shechtman
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-7-3
Journal Detail:
Title:  Clinical & experimental optometry : journal of the Australian Optometrical Association     Volume:  -     ISSN:  1444-0938     ISO Abbreviation:  Clin Exp Optom     Publication Date:  2014 Jul 
Date Detail:
Created Date:  2014-7-4     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8703442     Medline TA:  Clin Exp Optom     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2014 The Authors. Clinical and Experimental Optometry © 2014 Optometrists Association Australia.
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