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. 2011 Apr 29;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 +