Faculty Bibliography

A patient with congenital stationary night blindness (CSNB) (Schubert-Bornschein type) transmitted as an autosomal recessive trait was studied with several tests of electrical function as well as a variety of psychophysical procedures. Comparison of the patient's present findings with those obtained 23 years earlier showed that while rod thresholds have remained the same, cone sensitivity has decreased. Subjective flicker thresholds obtained following a bleach were unchanged during the course of dark adaptation. The absence of rod-cone interaction, together with an absent scotopic b-wave, implies that the defect is in the mid-retinal layers. Further, the absence of oscillatory potentials in the photopic electroretinogram (ERG) suggests that the interplexiform cell may be implicated in some manner. The focal ERG of the CSNB patient showed normal amplitude and normal phase delays, supporting the idea that the focal ERG samples primarily cone photoreceptor activity

Psychophysical, reflectometric, and electrophysiological studies were performed on four members of a dominant pedigree with progressive cone dystrophy. The two youngest individuals were asymptomatic at the initial examination, and none of the subjects complained of problems associated with night vision. Absent or grossly reduced cone-mediated ERG responses revealed the widespread loss of cone function. Moderate elevations (1 log unit) in absolute threshold together with reductions in rhodopsin levels in the midperipheral retina provided evidence of a mild impairment of the rod system also, although not to the degree seen in a cone-rod dystrophy. The progressive nature of the disease was apparent from the case histories and the changes in visual performance that occurred on re-test after a 5-year interval. Likewise, the results of incremental threshold measurements at several retinal loci suggested that peripheral cones may be affected earlier and more severely than those in the central retina

A stimulus consisting of 96 red LEDs mounted in the rear of a ganzfeld bowl was used to elicit focal electroretinograms (FERG) from the central 9 degrees of the retina in human subjects. The luminance of the stimulus was driven sinusoidally at frequencies from 10-60 Hz. The temporal responsiveness and response phase lags of normal subjects and patients with retinal disease were measured. Normal subjects produced maximum amplitude FERG responses to stimuli between 30-40 Hz. Patients with retinitis pigmentosa showed a low-pass pattern of amplitude loss, with an additional frequency independent loss in sensitivity in those with poorer visual acuity. Patients with macular degeneration showed general amplitude loss associated with a relative sparing of the mid-temporal frequencies. The response phase lags in both patient groups were not significantly different from the normals. These findings point to a loss in temporal responsiveness accompanied by a secondary loss of sensitivity in these heredoretinal degenerations

Temporal modulation transfer functions (MTF's) were recorded from the macula of nine normal subjects using focal electroretinography (FERG). An array of light emitting diodes (LED's) was used to experimentally manipulate stimulus temporal frequency, modulation depth, and mean luminance values. Two techniques were used to derive FERG modulation thresholds at several temporal frequencies: conventional averaging with extrapolation to a criterion amplitude, and a swept stimulus lock-in retrieval method. These two methods produced comparable results. The electrophysiologically derived MTF's were similar in shape to those obtained psychophysically. Six patients with retinal disease were also examined; all patients showed sensitivity losses which were most marked at the higher frequencies. Such losses tended to be greater in patients with poorer visual acuity

Various noninvasive test procedures were used to evaluate retinal function in a patient who had become night blind following vincristine chemotherapy. The results obtained were strikingly similar to those reported previously in subjects with recessively inherited stationary night blindness; the dark-adaptation curve was monophasic (ie, no evidence of a scotopic branch), rhodopsin kinetics were entirely normal, and spectral threshold data revealed the presence of residual rod-mediated vision. Also like the heritable condition, the b-wave of the ERG was depressed grossly despite normal a-wave potentials. These findings, and the fact that vincristine is known to disrupt the structural integrity of neuronal microtubules, suggest that the drug-induced defect involves the process of synaptic transmission between the photoreceptors and their second-order neurons

A psychophysical procedure, the probe-flash paradigm, was used to test explanations of early foveal sensitivity loss in retinitis pigmentosa. The findings suggest that this loss may be due to a decreased responsiveness of retinal elements and not to a decrease in quantum catching ability of functioning photoreceptors

Pattern evoked electroretinograms (PERG), diffuse flash electroretinograms (ERG) and visual evoked potentials were studied in patients with unilateral optic nerve disease. Patients with Snellen acuities of less than 6/30 did not have recordable PERGs in their affected eye, whereas their diffuse flash ERGs were normal. The VEPs were correspondingly reduced or absent when recorded from the poorer seeing eyes. A second group of patients with Snellen acuity between 6/6 and 6/30 in the involved eye showed reductions in the mean PERG amplitude of the affected as compared with the normal eyes. All affected eyes showed an abnormal contrast threshold measured with the PERG amplitude. Such results underscore the diagnostic value of the PERG in detecting even mildly affected cases of optic nerve disease

It is possible to record a pattern electroretinogram (PERG) of near normal amplitude in a situation when the eye containing the active electrode is occluded. Because PERG recording requires high amplification and sensitive signal retrieval techniques, the electrode in the occluded eye records a distant potential from the unoccluded eye. Referencing the active electrode to an ipsilateral ear diminishes, but does not eliminate the referred PERG potential. Such unlooked for interaction may provide misleading data in situations where binocular viewing is used because of poor vision in one eye; therefore, occlusion of the eye not being tested should be undertaken whenever possible