Atypical presentation of Coats' Syndrome in facioscapulohumeral dystrophy - Reflecting the variation in phenotypic manifestations
File(s)
Published version
Author(s)
Akshikar, Rashmi
Feng, Rui
Gill, Kiranpreet
Chehade, Luke
Hughes, Edward
Type
Journal Article
Abstract
Purpose:
To report a unique case of atypical Coats' Syndrome in an 80 year old female with facioscapulohumeral dystrophy.
Observations:
An 80 years old female was diagnosed clinically of retinal telangiectasia with exudation threatening the fovia. She received a successful macular laser photocoagulation with subsequent cessation of leakage.
Conclusions and importance:
This case is in keeping with Coats' syndrome in fascioscapulohumeral dystrophy, which classically affects young male subjects - making this patient an obvious outlier. This once again reflects the variation in phenotypic manifestations of inherited disorders.
To report a unique case of atypical Coats' Syndrome in an 80 year old female with facioscapulohumeral dystrophy.
Observations:
An 80 years old female was diagnosed clinically of retinal telangiectasia with exudation threatening the fovia. She received a successful macular laser photocoagulation with subsequent cessation of leakage.
Conclusions and importance:
This case is in keeping with Coats' syndrome in fascioscapulohumeral dystrophy, which classically affects young male subjects - making this patient an obvious outlier. This once again reflects the variation in phenotypic manifestations of inherited disorders.
Date Issued
2018-09-01
Date Acceptance
2018-04-16
Citation
American Journal of Ophthalmology Case Reports, 2018, 11, pp.17-18
ISSN
2451-9936
Publisher
Elsevier
Start Page
17
End Page
18
Journal / Book Title
American Journal of Ophthalmology Case Reports
Volume
11
Copyright Statement
© 2018 Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/BY-NC-ND/4.0/
Subjects
Atypical Coats’ Syndrome
Exudative retinopathy with telangiectasia
Facioscapulohumeral dystrophy
Publication Status
Published
Date Publish Online
2018-04-21