PMC4785711_01
Fundus fluorescein angiogram and spectral domain optical coherence tomogram (transfoveal line scan) of right (a, c, and e) and left (b, d, and f) eye of patient 1 show normal appearance except loss of normal inner segment-outer segment junction bump at fovea
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F1
Fundus examination of both the eyes showed normal optic disc (Bergmeisters' papilla in right eye) and bright foveal reflex [Figure 1a and b]. FFA [Figure 1c and d] and flash VEP [Figure 3] were unremarkable. The SD-OCT showed intact external limiting membrane, preserved but flat inner segment-outer segment (IS-OS) junction (absence of normal bowing effect/bump of IS-OS junction line in normal individuals) in both the eyes [Figure 1e and f].
Full field electroretinogram of the right (a) and left (b) eye of patient 1 showing normal responses
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F2
The amplitude and latencies of full-field ERG were within normal range for both rod and cone components in the right [Figure 2a] and left eye [Figure 2b].
Flash visual evoked potential showing waveforms with normal amplitude and latency in patient 1
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F3
FFA [Figure 1c and d] and flash VEP [Figure 3] were unremarkable.
Trace arrays and ring averages of multifocal electroretinogram of the right (a and c) and left eye (b and d) showing subnormal responses from the central macula, inner rings being affected more than the outer rings in patient 1
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F4
The mfERG showed waveforms with decreased signal amplitudes and prolonged latency originating from the central macula [Figure 4a and b], the central rings were affected more than the peripheral rings.
PMC4785711_02
Fundus and autofluorescence imaging of right (a and c) and left (b and d) eye of patient 2 appear normal. Spectral domain optical coherence tomogram (transfoveal line scan) show absence of inner segment-outer segment junction line in both eyes (e and f)
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F5
The fundus photo [Figure 5a and b] was normal in both eyes. FAF [Figure 5c and d] showed small elliptical area of hypoautofluorescence at fovea surrounded by patchy areas of hyperautofluorescence in both the eyes. SD-OCT [Figure 5e and f] horizontal transfoveal scans showed an intact external limiting membrane and absence of IS-OS junction line in both the eyes.
Pattern deviation plot obtained through Humphrey visual field analyzer 24-2 of right (a) and left (b) eye show central scotoma in patient 2
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F6
The automated visual fields, though unreliable due to high fixation loss, showed central scotoma [Figure 6a and b] with reduced foveal threshold of 27 and 26 dB in left and right eyes, respectively.
Trace arrays and ring averages of multifocal electroretinogram of the right (a and c) and left eye (b and d) showing subnormal responses from the central macula, inner rings being affected more than the outer rings in patient 2
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F7
The mfERG [Figure 7a-d] showed waveforms with reduced amplitude and prolonged latency from macular area.