Table 1.
Demographic and clinical data of six probands with Schnyder corneal dystrophy
| 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 | |
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
Elevated values are shown in bold