Table 2

CV prevalence in non-classical/uncertain cases in the literature

AuthorYearn (m/f)GLA variantCV prevalenceDetails
TotalMenWomen
Per centnPer centnPer centn
Allen20109 (6/3)7x p.N215S
2x p.A143T
11117100Mild CV in a 3.5-year-old boy with p.A143T (personal communication)
Gupta20057 (0/7)4x p.R112H
3x p.N215S
Lin201052 (7/45)c.936+919G>A (IVS4+919G>A)29151413114
Ries20032 (2/0)p.A143T0000
Ries20053 (3/0)2x p.R112H
1x p.A97V
0000
Rákóczi20074 (1/3)p.N215S
  • –, not applicable or missing data; CV, cornea verticillata; m/f, male/female.