Table 2 of
Nallathambi, Mol Vis 2006;
12:236-242.Table 2 of
Nallathambi, Mol Vis 2006;
12:236-242.
Table 2. Clinical findings of probands with PAX6 mutation
This table summarizes the clinical data and phenotypes of subjects with PAX6 mutations. Neither patient had a refractive error, nystagmus, cataract, or macular hypoplasia. "HM" denotes hand movements. The terms "RE" and "LE" indicates the right eye and the left eye, respectively, "PRL" refers to poor reactive in light. "RL" refers to reactive in light and "N" indicates normal. The symbols "+" and "-" represent present and absent, respectively.
Optic
Optic nerve disc
Best vision Glaucoma hypoplasia coloboma
Age/ ----------- --------- ----------- ---------
Proband Sex RE LE Pupil Iris RE LE RE LE RE LE
------- ---- ---- ---- ----- ---- --- --- ---- ---- --- ---
ONH4-1 4/M 3/60 3/60 PRL N - - + + - -
ODC5-1 6/M HM HM RL N - - - - + +
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