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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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