PMC5665016_01
Right eye with severe optic nerve hypoplasia, left with mild in a child with vertical and horizontal nystagmus and septo-optic dysplasia.
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F4
Dilated fundus examination revealed normal retina and macula, but markedly small, flat optic nerves (see figure 4).
PMC5665016_02
Frontal encephalocoele presenting with infantile nystagmus. Cerebellar tonsillar ectopia was also present.
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F5
MRI confirmed a left frontal encephalocoele (figure 5), along with cerebellar tonsillar ectopia.
PMC5665016_03
Electroretinogram of patient with CACNA1F mutation and spasmus-nutans-like nystagmus, compared to normal ERG.
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F6
Upon referral to the genetic eye disease service ERG was performed (indication: nystagmus, no iris transillumination, decreased best corrected vision, moderate photophobia, and normal MRI) and showed markedly reduced amplitudes in all conditions with electronegative standard combined response (see figure 6).
Hazel iris in oblique illumination on the top, with pupillary illumination on the bottom. Note the edge of the crystalline lens visible with surrounding iris transillumination temporally.
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F7
This may reveal subtle but diffuse iris transillumination not readily apparent on the fleeting examination otherwise possible (see figure 7).
PMC5665016_04
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