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Table 1 Clinical feature summary of the Chinese origin RVCL-S pedigree

From: High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)

  I-1 II-1 II-5 II-3 II-10 III-1 III-2 III-4 III-6 III-7 IV-1 IV-2 IV-3
Demographics  
Age at onset       42 40 39   29    
Age at diagnosis       46 41 39 41 35 26 19 5
Age at death 42 45 43 41 44 47   40      
Gender M F F M M F M F F M F F F
Symptoms and signs              
Retinopathy  +   +   +   +   +   +   −   +   −   +   −   −   − 
Seizures  −   −   −   −   −   −   −   +   −   +   −   −   − 
ICP        −   −   +   −   −   −   −   − 
Cognitive decline  +        +   −   −   −   +   −   −   − 
Stroke-like episode  −   −   −   −   −   +   −   +   −   +   −   −   − 
Nephropathy  +   +   +   +   +   +   +   +   −   +   −   −   − 
Mesenteric ischemia        −   −   −   −   +   −   −   − 
Ascites  +        −   +   −   −   +   −   −   − 
Hypertension  +   +   +   +   +   +   +   +   −   +   −   −   − 
Lab workups              
Proteinuria        +   +   +   −   +   −   −   − 
GFR (mL/min)       15.03 9.6 41.49 Normal 38.5 Normal Normal Normal
Hyperlipidemia        +   +   −   −   +   −   −   − 
Hypoalbuminemia        +   +   +   −   −   −   −   − 
Normocytic anemia        +   +   +   −   −   −   −   − 
Hyperfibrinogenemia        −   −   −   −   +   −   −   − 
Hypothyroidism        +   −   −   −   −   −   −   − 
Hyperparathyroidism        −   +   −   −   −   −   −   − 
Inflammatory markers       ESR, FDP, D-D↑ IL-6, ESR↑ FDP, D-D↑ Normal ESR, CRP, FDP, D-D↑ Normal Normal Normal
Neuroimagings              
Leukoaraosis       Fazekas 3   Fazekas 1 Fazekas 1 Fazekas 3 None None None
Number of rim-enhancing lesion       Multiple   Single None Multiple    
Mass effect and edema        +     +  None  +  None None None
Neuropathology         vasculopathy mimicking CNS vasculitis      
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