Table 1 of Siemiatkowska, Mol Vis 2011; 17:3013-3024.

Table 1. Clinical and demographical characteristics of affected individuals

Family
code
Patient
Gender		 Age of
onset (y)		 Current
age (y)		 Visual acuity Fundus
appearance
OD OS
W09–0036 II:6 M 21 46 20/40 20/40 AA, BS
II:4 F 25 50 20/40 20/40 AA, BS
II:3 M 25 51 20/40 20/40 AA, BS
W09–0037 II:2 F 14 32 HM HM AA, BS
II:3 F 14 29 HM HM AA, BS
W09–0038 II:3 M 17 30 HM CF AA, BS
II:2 F 18 32 HM HM AA, BS
W09–0039 III:1 F 20 46 LP+ LP+ AA, BS, POD
W09–0040 III:3 M 15 45 LP- LP+ AA, BS, POD
IV:1 F 8 10 HM HM n.d.
II:6 M 14 71 HM LP- n.d. (cataract)
III:5 M 13 59 HM LP- AA, BS, POD
W09–0041 IV:4 M 14 44 20/200 20/200 BS
IV:5 F 13 41 20/100 20/70 BS
IV:1 F 15 49 20/200 20/200 BS
IV:7 M 15 35 20/40 20/40 BS
IV:2 M 13 64 HM HM AA, BS, POD
W09–0042 IV:2 F 5 64 HM HM AA, BS, POD
IV:3 M 6 62 HM HM AA, BS, POD
W09–0044 II:1 F 12 59 LP+ LP+ AA, BS, POD
W09–0045 II:2 M 11 55 LP+ LP+ AA, BS, POD
II:9 F 11 37 20/240 20/240 BS
II:10 F 12 35 20/240 20/240 BS
II:4 M 13 48 HM HM BS
II:7 M 12 39 HM HM BS
W09–0046 IV:7 M 14 46 20/400 20/400 BS
IV:8 M 15 40 20/400 20/400 BS
IV:5 M 14 47 HM HM BS
W09–0047 II:1 F 15 39 HM HM BS
II:2 M 12 33 CF CF BS
W09–0048 II:1 M 12 59 LP- LP- AA, BS, POD
W09–0049 III:1 M 15 68 LP- LP- AA, BS, POD
W09–0050 IV:3 M 15 48 LP+ LP+ AA, BS, POD

Clinical characteristics of all affected family members. M: male; F: female. CF: counting fingers; HM: hand motion; LP+: light perception; LP-; no light perception; AA: attenuated arterioles; BS: bone spicules; POD: pale optic disc; n.d.: not determined.

Siemiatkowska, Mol Vis 2011; 17:3013-3024. http://www.molvis.org/molvis/v17/a325

©2011 Molecular Vision http://www.molvis.org/molvis/

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