Table 1 of Garcia-Hoyos, Mol Vis 2011; 17:1103-1109.


Table 1. Clinical features of the families with the p.R838P mutation in GUCY2D.


Individual

Age
Visual acuity
(RE/ LE)

Fundus findings
Central
scotoma
Color
vision

Nystagmus
II:1 70 0.01/0.01 Macular degeneration +++ Normal +
II: 3 61 0.3/0.2 Macular degeneration N/A Normal +
II:4 59 0.01/0.01 Macular degeneration Salt-and-pepper fundus appearance in the posterior pole ++ Normal +
III:2 35 0.2/0.2 Tapetoretinal degeneration
Salt-and-pepper fundus appearance ++ Normal +
III:5 28 0.3/0.1 Discreet salt-and-pepper fundus appearance ++ Normal +
IV:1 21 N/A Salt-and-pepper fundus appearance ++ Normal +
IV:2 15 0.1/0.1 Poorly distinguishable macula + Normal +