Table 3 of Wang, Mol Vis 2010; 16:1146-1153.


Table 3. Clinical findings in patients from Families A-E and mutations identified in PAX3.

      Visual acuity              


ID


Sex

Age
(yrs)


OD


OS


Mutation


Effect
Differently
colored
eyes

Fundus
hypopigmentation

Dystopia
canthorum


Deafness

Family
history
A-II:1 F 1 NA NA c.567_586+17del p.Asp189_Gln505delinsGluGlyGlyAlaLeuAlaGly OS OS Yes NA No
B-II:1 M 0.6 NA NA c.456_459dupTTCC p.Ile154PhefsX162 OS OS Yes NA No
C-II:1 M 7 1.00 0.90 c.795_800delCTGGTT p.Trp266_Phe267del OS OS Yes No No
D-IV:1 M 6 0.90 1.00 c.799T>A p.Phe267Ile OD OD Yes No Yes
E-II:1 F 23 1.50 1.50 c.667C>T p.Arg223X OS OS Yes No No