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Table 2 Clinical characteristics of fourteen patients with GD-T1 with abnormality of saccadic velocity in three or more measures

From: Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease

Age

Age Dx

Age at ERT

Genotype

Spleen

Gaucher related Co-morbidities

Number of velocity measures abnormal

Direction of abnormality

Clinical saccade abnormality

53

5

32

R463C/RecNcil

S

Liver disease

4

Left & right

Y

49

19

37

R463C/RecNcil

S

 

6

All

Y

55

47

47

R262G/RecNcil

 

Abnormal neurology

4

Left, right, down

Y

48

4

25

R463C/IVS2+1

S

Liver disease & Lung disease

6

Left, right, down

Y

77

56

57

R463C/L444P

 

Lung disease

6

Left, right, up

Y

15

8

8

R463C/R257Q

  

8

All

 

70

6

54

R463C/G377R

S

Lung disease

5

All

Y

64

6

46

R463C/RecNcil

S

Cognitive Impairment

6

Left, right, down

Y

18

3

3

R463C/N462K

  

4

Left & down

 

73

48

56

R463C/L444P

S

 

6

All

Y

31

5

6

R463C/L444P

 

Liver disease & subtle ataxia

8

All

Y

43

2

27

R463C/L444P

S

 

8

All

 

16

3

3

R463C/RecNcil

  

3

Right & down

 

12

11mo

1

H311R/R359Q

 

Liver disease; lung disease & lymphadenopathy

4

Left & right

Y

  1. Dx: Diagnosis; Age given in years; Genotype: Traditional GBA1 variant nomenclature used; R463C (p.Arg502Cys); RecNcil (recombinant consisting of multiple pseudo-gene derived point mutations); L444P (p.Leu483Pro); IVS2+1 (Splice site variant c.115+1G > A); G377R (p.Gly416Arg); R262G (p.Arg301Gly); R257Q (p.Arg296Gln); N462K (p.Asn501Lys)
  2. S, splenectomised; Y, yes/present
  3. *Genotype documented but not confirmed
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172