Table 2 of
Chen, Mol Vis 2006;
12:360-366.Table 2 of
Chen, Mol Vis 2006;
12:360-366.
Table 2. Clinical features and gene screening results of the consulters
All ten consulters had no visual field defects. Among them, five subjects (IV:6, IV:7, IV:11, IV:12, and V:1) were labeled as suspects because of a maximum IOP higher than 21 mm Hg. There were three consulters (IV:6, IV:11, and IV:12) with affected first-degree relatives but only IV:11 and IV:12 were detected to carry the Pro370Leu mutation.
Maximum Visual First-
IOP Cup-disc field degree Mutation
Family Age (mm Hg) ratio score relatives analysis
Member Sex (years) (OD/OS) (OD/OS) (OD/OS) Diagnosis affected (Pro370Leu)
------ --- ------- ------- -------- ------- ---------- --------- -----------
IV:1 F 35 19/21 0.3/0.4 0/0 Unaffected No -
IV:3 F 30 21/19 0.4/0.3 0/0 Unaffected No -
IV:6 M 23 24/22 0.3/0.3 0/0 Suspect Yes -
IV:7 M 24 22/23 0.3/0.3 0/0 Suspect No -
IV:9 M 25 15/12 0.3/0.3 0/0 Unaffected No -
IV:10 M 21 21/21 0.3/0.2 0/0 Unaffected No -
IV:11 M 12 25/25 0.3/0.3 0/0 Suspect Yes +
IV:12 M 10 24/25 0.5/0.4 0/0 Suspect Yes +
V:1 M 10 24/24 0.5/0.5 0/0 Suspect No -
V:2 M 6 21/18 0.2/0.2 0/0 Unaffected No -
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