Assessment of Night Vision Problems in Patients with Congenital Stationary Night Blindness

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

Assessment of night vision problems in patients with congenital stationary night blindness

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. © 2013 Bijveld et al. 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

Mutations in GRM6 Cause Autosomal Recessive Congenital Stationary Night Blindness with a Distinctive Scotopic 15-Hz Flicker Electroretinogram

PURPOSE: Congenital stationary night blindness (CSNB) is a group of nonprogressive retinal disorders characterized by impaired night vision that occurs in autosomal dominant, autosomal recessive, or X-linked forms. Autosomal recessive (ar)CSNB seems to be very rare. Mice lacking the metabotropic glutamate receptor 6 (Grm6) have a defect in signal transmission from the photoreceptors to ON-bipolar cells. In the current study, the human orthologue (GRM6) was screened as a likely candidate for arCSNB. METHODS: arCSNB individuals of five families were screened for mutations in GRM6. Subsequently, they were examined with standard and 15-Hz flicker electroretinography (ERG). These recordings were compared with those of patients with X-linked CSNB1. RESULTS: Affected individuals in three of five families carried either compound heterozygous or homozygous mutations in GRM6. Strikingly, all of them displayed a distinctive abnormality of the rod pathway signals on scotopic 15-Hz flicker ERG. CONCLUSIONS: The novel profile identified in this study suggests the existence of more than two rod pathways. The distinctive ERG feature was not observed in patients with X-linked CSNB1 and additional affected individuals with unknown molecular defect. These observations will help to discriminate autosomal recessive from X-linked recessive cases by ERG and molecular genetic analysis

Linear regression between the intensity at which 50% of the objects were detected (i50_d) or recognized (i50_r) and the visual acuity.

<p>The lines resemble the simple linear regression fits. A: The Pearson correlation coefficient for i50_d and the visual acuity was <i>R</i> = 0.84, p<0.01 for the CSNB2 patients, and <i>R</i> = 0.41, p>0.05 for the CSNB1 patients. B: The Pearson correlation coefficient for i50_r and the visual acuity was <i>R</i> = 0.92, p<0.01 for the CSNB2 patients, and <i>R</i> = 0.86, p<0.01 for the CSNB1 patients.</p

Statistical analyses of slope_d, slope_r, i50_d, i50_r, and the difference between i50_d and i50_r (i50_r–i50_d) between control subjects, CSNB2, and CSNB1 patients.

<p>Analyses were performed through One-Way ANOVA tests (overall effect) and Bonferroni corrected Post Hoc tests for pairwise multiple comparisons.</p>**<p><i>p</i>-value <0.001.</p>*<p><i>p</i>-value <0.05.</p><p>n.s. not significantly different.</p

Scotopic visual field results of the normal subjects, the CSNB2 patients, and the CSNB1 patients.

<p>A: The threshold found at each location of the scotopic visual field, plotted per subject. The open markers represent the average threshold found in that subject. The dashed lines indicate the measuring range, which was 28 to 75 dB in control subjects and CSNB2 patients, and 0 to 47 dB in CSNB1 patients. We found slightly elevated thresholds in CSNB2 patients compared to the thresholds of normal subjects. The thresholds were more elevated in the CSNB1 patients. B: The averaged thresholds of four locations at 7°, 45°, 60° and 75° on the horizontal axes per subject. Thresholds were slightly elevated towards the far end of the visual field in control subjects. We found an equal decline in the control subjects, the CSNB2 and the CSNB1 patients.</p

Results of Parts 4 to 7 of the questionnaire.

<p>Top: answers of CSNB2 patients. Bottom: answers of CSNB1 patients. The black horizontal lines indicate the medians. The grey vertical lines extend from the first quartile to the third quartile and thus indicate the range of the mid 50% ranked answers. A black dot is used when the mid 50% ranked date contained one answer only.</p

Dark adaptation curves of the CSNB2 patients (A) and CSNB1 patients (B), and a control subject (green curve).

<p>The normal DA curve shows a biphasic form, with an early cone-mediated phase and a later rod-mediated phase. The DA curves of the CSNB2 patients also showed such a biphasic form. Their final thresholds were variably elevated. The DA curves of the CSNB1 patients only showed a cone-mediated phase. Their final thresholds were all approximately 3 log units elevated.</p