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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