Clinical/molecular genetic diagnosis | Number of patients (sex) | Age (years) (range) | Ethnicity of patients | Nucleotide and amino acid residue change |
Lattice dystrophy | 1 (female) | 31 | Chinese | c.1859C→A p.Ala620Asp (A620D)* |
Lattice dystrophy | 2 (1 male, 1 female) | 46 (37–55) | Two Chinese | c.1877A→G p.His626Arg (H626R) |
Lattice dystrophy | 5 (3 male, 2 female) | 46.6 (17–74) | Four Malay, one Chinese | c.370C→T p.Arg124Cys (R124C) |
Lattice dystrophy | 1 (male) | 38 | Thai | c.1715A→G p.His572Arg (H572R) |
Granular dystrophy | 6 (1 male, 5 female) | 63.3 (47–84) | Five Chinese, one Indonesian | c.371G→A p.Arg124His (R124H) |
Granular dystrophy | 4 (3 male, 1 female) | 68 (49–77) | Two Chinese, one Indian, one Bangladeshi | c.1663C→T p.Arg555Trp (R555W) |
Avellino dystrophy/GCD type II | 1 (male) | 60 | Indonesian | p.Leu550Pro (L550P) |
Reis–Bucklers | 1 (male) | 11 | Chinese | c.371G→T p.Arg124Leu (R124L) |
Thiel–Behnke (initially Reis–Bucklers) | 1 (male) | 66 | Chinese | c.1664G→A p.Arg555Gln (R555Q) |
* This is the novel mutation identified and studied in this article.
GCD, granular corneal dystrophy.