Exudative vasculopathy in a child with Leber congenital amaurosis

Moloney, Thomas P., Patel, Chirag and Gole, Glen A. (2014) Exudative vasculopathy in a child with Leber congenital amaurosis. Journal of AAPOS, 18 3: 297-299. doi:10.1016/j.jaapos.2014.01.006


Author Moloney, Thomas P.
Patel, Chirag
Gole, Glen A.
Title Exudative vasculopathy in a child with Leber congenital amaurosis
Journal name Journal of AAPOS   Check publisher's open access policy
ISSN 1528-3933
1091-8531
Publication date 2014-06-01
Year available 2014
Sub-type Article (original research)
DOI 10.1016/j.jaapos.2014.01.006
Open Access Status Not Open Access
Volume 18
Issue 3
Start page 297
End page 299
Total pages 3
Place of publication Philadelphia, PA, United States
Publisher Mosby
Language eng
Formatted abstract
Leber congenital amaurosis is a severe retinal dystrophy that causes blindness or severe visual impairment, usually before the age of 1 year. We present the case of a 13-year-old girl with Leber congenital amaurosis who developed an exudative vasculopathy. She was successfully treated with cryotherapy and argon green laser. To our knowledge, only 4 cases of this condition in patients with Leber congenital amaurosis have been reported previously. This phenotype may be related to c.2991+1655A>G (p.Cys998X) mutations in the CEP290 gene.
Keyword Leber congenital amaurosis
Exudative vasculopathy
Q-Index Code CX
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
School of Medicine Publications
 
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