Table 3

Study of the occurrence of chorioretinal dystrophy (CRD) and/or neutropenia in patients with VPS13B mutations reported in the literature and in the present series (N positive/N assessed patients)

CRDNeutropeniaCRD or neutropenia
Kolehmainen et al, 2003331/3131/3131/31
Kolehmainen et al, 2004728/2925/2629/29
Falk et al, 200458/8*NR8/8
Hennies et al, 2004613/20†10/1817/20
Kondo et al, 200482/22/22/2
Mochida et al, 200694/7*3/75/7
Seifert et al, 20061013/21‡14/1616/21
Katzaki et al, 2007119/10*9/1010/10
Seifert et al, 20091411/12§6/1112/12
Balikova et al, 2009138/87/88/8
Present series11/12¶11/1212/12
Total (% of positive/assessed patients)138/160 (86%)
128/139 (92%)
if children aged ≤5 years are excluded
118/141 (84%)150/160 (94%)
133/139 (96%)
if children aged ≤5 years are excluded
  • NR: not reported.

  • * Including 1 patient aged ≤5 years. †Including 7 patients aged ≤5 years. ‡including 6 patients aged ≤5 years. §Including 3 patients aged ≤5 years. ¶Including 2 patients aged ≤5 years.