Does acute loss of vision in Autosomal Dominant Optic Atrophy occur early in childhood?

Kearns, Lisa S., Forrest, Michael, Cohn, Amy C., Churchill, Amanda J. and Mackey, David A. (2010) Does acute loss of vision in Autosomal Dominant Optic Atrophy occur early in childhood?. Ophthalmic Genetics, 31 1: 44-46. doi:10.3109/13816810903479842


Author Kearns, Lisa S.
Forrest, Michael
Cohn, Amy C.
Churchill, Amanda J.
Mackey, David A.
Title Does acute loss of vision in Autosomal Dominant Optic Atrophy occur early in childhood?
Journal name Ophthalmic Genetics   Check publisher's open access policy
ISSN 1381-6810
1744-5094
Publication date 2010-03
Sub-type Article (original research)
DOI 10.3109/13816810903479842
Volume 31
Issue 1
Start page 44
End page 46
Total pages 3
Place of publication London, United Kingdom
Publisher Informa Healthcare
Collection year 2011
Language eng
Formatted abstract
Purpose: In contrast to Autosomal dominant optic atrophy (ADOA), acute loss of vision is normally observed in Leber's hereditary optic neuropathy (LHON) patients. We present a case of a young child with ADOA with a confirmed OPA1 mutation who appeared to have had an acute visual loss in the third year of life. Methods:Differentiating between ADOA and LHON requires careful documentation of visual symptoms, family history, clinical examination and genetic testing if available. Conclusions:This clarifies the clinical diagnosis, ensuring appropriate genetic counselling is provided so that affected individuals are accurately informed on inheritance patterns and implications for family members.
© 2010 Informa Healthcare USA, Inc.
Keyword Kjer's optic atrophy
Disease history
Acute vision loss
Age of onset
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2011 Collection
School of Medicine Publications
 
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Created: Sun, 14 Mar 2010, 00:01:37 EST