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Reduction of Oscillatory Potentials and Photopic Negative Response in Patients with Autosomal Dominant Optic Atrophy with OPA1 Mutations

From the Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

PURPOSE. To study the electroretinographic (ERG) findings in patients with autosomal dominant optic atrophy (ADOA) with OPA1 mutations.

METHODS. Eight ADOA patients (age range, 24–55 years; mean, 41 years) with OPA1 mutations were studied. In addition to routine ophthalmological tests, full-field ERGs including the rod response, mixed rod-cone response, oscillatory potentials (OPs), single-flash cone response, and photopic negative response (PhNR) were recorded and compared with those from 25 age-matched controls. The correlation between the ERG data and averaged retinal nerve fiber layer (RNFL) thickness around the optic disk measured by optical coherent tomography, mean deviation of the static perimetry (Humphrey 30–2 program), or corrected visual acuity was also examined.

RESULTS. Amplitudes of the PhNR and OPs, both of which are believed to originate from inner retinal layers, were significantly smaller in ADOA patients than in control subjects (P < 0.01). Amplitudes of other ERG components were not statistically different in the two groups. OP amplitude was inversely correlated with the patient’s age. The RNFL was thinner and the retinal sensitivities obtained by static perimetry were lower in ADOA patients, but these values were not correlated with the amplitude of PhNR or OPs.

CONCLUSIONS. These results suggested that there are functional impairments not only in the ganglion cell layer but also in the inner nuclear and plexiform layers, including the amacrine cells of ADOA patients with OPA1 mutations.

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