In:
Journal of Internal Medicine, Wiley, Vol. 285, No. 3 ( 2019-03), p. 317-332
Abstract:
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ( RVCL ‐S) is a small vessel disease caused by C‐terminal truncating TREX 1 mutations. The disease is typically characterized by vascular retinopathy and focal and global brain dysfunction. Systemic manifestations have also been reported but not yet systematically investigated. Methods In a cross‐sectional study, we compared the clinical characteristics of 33 TREX 1 mutation carriers ( MC +) from three Dutch RVCL ‐S families with those of 37 family members without TREX 1 mutation ( MC ‐). All participants were investigated using personal interviews, questionnaires, physical, neurological and neuropsychological examinations, blood and urine tests, and brain MRI . Results In MC +, vascular retinopathy and Raynaud's phenomenon were the earliest symptoms presenting from age 20 onwards. Kidney disease became manifest from around age 35, followed by liver disease, anaemia, markers of inflammation and, in some MC +, migraine and subclinical hypothyroidism, all from age 40. Cerebral deficits usually started mildly around age 50, associated with white matter and intracerebral mass lesions, and becoming severe around age 60–65. Conclusions Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations is a rare, but likely underdiagnosed, systemic small vessel disease typically starting with vascular retinopathy, followed by multiple internal organ disease, progressive brain dysfunction, and ultimately premature death.
Type of Medium:
Online Resource
ISSN:
0954-6820
,
1365-2796
DOI:
10.1111/joim.2019.285.issue-3
Language:
English
Publisher:
Wiley
Publication Date:
2019
detail.hit.zdb_id:
2006883-9
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