No abstract

Congenital Stationary Night Blindness (CSNB) is a retinal disorder caused by a signal transmission defect between photoreceptors and bipolar cells. CSNB can be subdivided in CSNB2 (rod signal transmission reduced) and CSNB1 (rod signal transmission absent). The present study is the first in which night vision problems are assessed in CSNB patients in a systematic way, with the purpose of improving rehabilitation for these patients. We assessed the night vision problems of 13 CSNB2 patients and 9 CSNB1 patients by means of a questionnaire on low luminance situations. We furthermore investigated their dark adapted visual functions by the Goldmann Weekers dark adaptation curve, a dark adapted static visual field, and a two-dimensional version of the “Light Lab”. In the latter test, a digital image of a living room with objects was projected on a screen. While increasing the luminance of the image, we asked the patients to report on detection and recognition of objects. The questionnaire showed that the CSNB2 patients hardly experienced any night vision problems, while all CSNB1 patients experienced some problems although they generally did not describe them as severe. The three scotopic tests showed minimally to moderately decreased dark adapted visual functions in the CSNB2 patients, with differences between patients. In contrast, the dark adapted visual functions of the CSNB1 patients were more severely affected, but showed almost no differences between patients. The results from the “2D Light Lab” showed that all CSNB1 patients were blind at low intensities (equal to starlight), but quickly regained vision at higher intensities (full moonlight). Just above their dark adapted thresholds both CSNB1 and CSNB2 patients had normal visual fields. From the results we conclude that night vision problems in CSNB, in contrast to what the name suggests, are not conspicuous and generally not disabling.

The minimum in the amplitude versus flash strength curve of dark-adapted 15 Hz electroretinograms (ERGs) has been attributed to interactions between the primary and secondary rod pathways. The 15 Hz ERGs can be used to examine the two rod pathways in patients. However, previous studies suggested that the cone-driven pathway also contributes to the 15 Hz ERGs for flash strengths just above that of the minimum. We investigated cone pathway contributions to improve upon the interpretation of (abnormal) 15 Hz ERGs measured in patients. We recorded 15 Hz ERGs in five healthy volunteers, using a range of flash strengths that we extended to high values. The stimuli were varied in both colour (blue, green, amber, and red) and flash duration (short flash and square wave) in order to stimulate rods and cones in various ways. The differences in the responses to the four colours could be fully explained by the spectral sensitivity of rods for flash strengths up to approximately 12.5 log quantaÁdeg -2 . At higher flash strengths, higher-order harmonics appeared in the responses which could be attributed to cones being more sensitive than rods to higher frequencies. Furthermore, the amplitude curves of the blue and green responses showed a second minimum suggesting rod to cone interactions. We present a descriptive model of the contributions of the rod and cone pathways. In clinical application, we would advise using the short flash flicker instead of the square wave flicker, as the responses are of larger amplitude, and cone pathway contributions can be recognized from large higher-order harmonics.

The amplitude versus flash strength curve of 15 Hz electroretinograms (ERGs) shows two minima. The minima are caused by interactions between the primary and the secondary rod pathways (first minimum), and the secondary rod pathway and the cone-driven pathway (second minimum). Furthermore, cone pathway contributions cause higher-order harmonics to occur in the responses. We measured 15 Hz ERGs in 20 healthy subjects to determine normal ranges and in patients to verify our hypotheses on the contributions of the different pathways and to investigate the clinical application. We analyzed the amplitudes and phases of the 15, 30, and 45 Hz components in the ERGs. The overall shape of the 15 Hz amplitude curves was similar in all normal subjects and showed two minima. The 30 and 45 Hz amplitude curves increased for stimuli of high flash strengths indicating cone pathway contributions. The 15 Hz amplitude curve of the responses of an achromat was similar to that of the normal subjects for low flash strengths and showed a minimum, indicating normal primary and secondary rod pathway function. There was no second minimum, and there were no higher-order harmonics, consistent with absent cone pathway function. The 15 Hz ERGs in CSNB1 and CSNB2 patients were similar and of low amplitude for flash strengths just above where the first minimum normally occurs. We could determine that in the CSNB1 patients, the responses originate from the cone pathway, while in the CSNB2 patients, the responses originate from the secondary rod pathway.

With commonly available tests the CR can easily be determined in school age children. For children >6 years of age, a CR > 2.0 (i.e. at least 3 lines difference between the result of a single optotype acuity test and a line acuity test) is suspicious and warrants further investigation. It may, for example, be a sign of cerebral visual impairment (CVI).