Retinal function in infants with optic nerve hypoplasia: electroretinograms to large patterns and photopic flash

Optic nerve hypoplasia (ONH), which is defined as a congenital deficiency of retinal ganglion cells, may also involve more distal layers of the retina. We investigated electrophysiological function of the retina in ONH using electroretinograms (ERGs).

ERGs were recorded from 48 subjects (3.5-35 months) with unilateral or bilateral ONH. Pattern reversal (4 degrees checks) was presented under chloral hydrate sedation, using an optical system to correct a cycloplegic refraction. A photopic flash stimulus was also used. Fundus photographs were used to measure the disk diameter/disk macula ratio (DD/DM), and to document other clinical signs. Eyes were classified as moderate (0.15-0.3) or severe (<0.15) ONH, and those with DD/DM greater than 0.3 were used as reference eyes.

Pattern ERG recording was completed in 89 eyes and was detectable in 80% of eyes with ONH (61/76 tested) and in all 13 reference eyes. Photopic flash ERGs were of good quality in all eyes. The severity of ONH correlates with the amplitude of the photopic flash b-waves and with the amplitude of the N95 component of the pattern ERG (P<0.01). However, the ERGs to large patterns were well preserved (>3.5 microV) in 10 of 35 eyes with severe ONH. Tortuous retinal vessels in eyes with either moderate or severe ONH were associated with smaller amplitude photopic b-waves and markedly diminished or undetectable pattern ERGs.

This study supports the hypothesis that retinal dysfunction distal to the ganglion cells is common in ONH, but is not predictable on the basis of ONH severity alone. Additionally, tortuous retinal vessels in ONH may be a sign associated with retinal dysfunction.