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Midlife diagnosis of Refsum Disease in siblings with Retinitis Pigmentosa - The footprint is the clue: A case report

Abstract:

Introduction: Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations. Case presentation: We present the cases of two brothers with a diagnosis of retinitis pigmentosa from childhood in whom Refsum disease was subsequently diagnosed midlife, after routine enquiry into hand and feet abnormalities. Subsequent treatment through dietary modification stabilised visual impairment and...

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Publisher copy:
10.1186/1752-1947-2-80

Authors


Jayaram, H More by this author
Downes, SM More by this author
Journal:
Journal of Medical Case Reports
Volume:
2
Issue:
1
Pages:
80-80
Publication date:
2008-03-12
DOI:
EISSN:
1752-1947
ISSN:
1752-1947
URN:
uuid:80ee8862-9737-4769-9be2-5328b2c58425
Source identifiers:
243289
Local pid:
pubs:243289
Language:
English

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