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Table 1 Demographic and clinical data of six probands with Schnyder corneal dystrophy

From: Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

No

Ethnicity

Family history

UBIAD1 mutation

Age (when recruited)/gender

BCVA

Corneal phenotype

Chol (mmol/l)

HDL (mmol/l)

LDL (mmol/l)

TG (mmol/l)

Other relevant clinical data

LE

RE

1

White Czech

Y

c.527G>A p.(Gly176Glu)

36/M

0.6

0.7

Subepithelial central and mid-peripheral crystals in a ring pattern, minimal corneal arcus

5.72

1.58

3.21

1.51

 

2

White Czech

N

c.289G>A p.(Ala97Thr)

6/F

0.6

0.5

Subepithelial mid-peripheral and mid-stromal crystals in a ring pattern

4.89

1.31

2.66

2.05

 

3

White British

Not known

c.361C>T p.(Leu121Phe)

10/M

0.3

0.3

Mid-stromal central crystals

5.00

1.90

UA

1.80

Amblyopia in BE

Lamellar keratoplasty in RE and LE at the age of 10 and 12 years

4

White British

Y

c.308C>T p.(Thr103Ile)

54/F

0.5

0.66

Central stromal haze, arcus, few mid-peripheral subepithelial crystals

UA*

UA

UA

UA

 

5

South Asian

Y

c.305G>A p.(Asn102Ser)

37/F

0.66

0.66

Diffuse stromal haze, few subepithelial mid-peripheral crystals

UA

UA

UA

UA

Knee deformities, scoliosis, learning difficulties

6

South Asian

Y

c.305G>A p.(Asn102Ser)

40/F

0.5

0.66

Central stromal haze, arcus, few subepithelial mid-peripheral crystals

UA

UA

UA

UA

 
  1. BCVA best corrected visual acuity, LE left eye, RE right eye, BE both eyes, M male, F female, Chol total cholesterol, HDL high density lipoprotein, LDL low density lipoprotein, TG triglycerides, *- elevated but value not known, UA unavailable data
  2. Elevated values are shown in bold