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Night blindness from vitamin A deficiency was observed in a patient with intestinal malabsorption, which in turn was attributable to duodenal diverticulosis and bacterial growth. Monthly supplementation with vitamin A and correction of bacterial overgrowth with tetracycline resulted in a normalisation of plasma retinol levels and resolution of the night blindness.
Since the non-invasive technque of retinal densitometry became available in 1955, rhodopsin kinetics could be studied in vivo. It was obvious that with this new tool investigators focussed attention on the aetiology of night blindness in various diseases. A brief review about the clinical developments in the past two decades is given. Also three case-reports are presented, which suggest that in some cases of congenital stationary night blindness (CSNB) the night blindness might arise from the absence of rhodopsin. This is contrary to the standing opinion and present problems regarding the integrity of the retina.
PURPOSE: To investigate whether the use of night-vision goggles (NVGs) by night-blind people improves their mobility and sense of independence under dark circumstances. METHODS: Twenty night-blind subjects with retinitis pigmentosa were requested to walk predetermined routes at night with and without NVGs. The number of unintended contacts with obstacles (hits) and the percentage of preferred walking speed (PPWS) en route were assessed in three different situations: a darkened indoor corridor; a moderately lit outdoor residential area; and a well-lit outdoor shopping area. Assessments were performed before and after a 5-week training period, during which the subjects practiced using NVGs in their own surroundings, registered their experiences in a journal, and filled out questionnaires. RESULTS: The mean number of hits in the darkened corridor declined from eight to two when NVGs were used. Mean PPWS (34%) did not improve. In the residential area, mean hits declined from eight to practically zero and mean PPWS increased from 60% to 72% (after training to 78%). In the shopping area, subjects walked at 93% PPWS without any hits and showed no improvement with NVGs. Subjective scores revealed a good sense of orientation, feelings of safety and tranquility and an increase in independent mobility when NVGs were used. CONCLUSIONS: Using NVGs seems to improve nighttime mobility in dark outdoor conditions by decreasing unintended contacts with obstacles and increasing walking speed. Use of NVGs increased independent activities in these subjects and was generally positively evaluated for everyday outdoor use.
The Night Vision Aid is a photomultiplier device developed by International Telephone and Telegraph Co. (ITT) and the Retinitis Pigmentosa Foundation as a mobility aid for those with night blindness. The purpose of this study was to measure visual acuity with and without the Night Vision Aid at a variety of light levels to determine how much visual assistance it provided over a wide range of illuminations. Ten normal subjects and five patients with retinitis pigmentosa (RP) used the aid at nine luminance levels ranging from 10(-6) to 10(2) ml. With the device, visual acuity improved at light levels below 0.1 ml and target visibility was extended about 3 log units further into low luminance. At light levels above 0.1 mL, unassisted visual acuity was better in all normal and most RP subjects. The best visual acuity attained with the Night Vision Aid was 6/15 (20/50). Graphs and dark adaptation curves illustrate our findings.
BACKGROUND: Night blindness is usually symptomatic of retinal dysfunction. However, apart from congenital forms of night blindness such as congenital stationary night blindness (CSNB) and pigmentary retinopathy without clumping of pigment, the acquired forms of night blindness present a particular diagnostic challenge to the ophthalmologist. CASE REPORT: A 51-year-old patient with formerly healthy eyes presented with malignant skin melanoma and sudden night blindness. Along with reduced acuity, concentric visual field limitation, and a marked decrease in sensitivity of the retinal rods and cones in adaptometrical tests, significantly reduced b waves and intact a waves were registered in the flash-ERG of both eyes with otherwise inconspicuous morphologic findings. Furthermore, serum levels of antibodies (IgG) against retinal bipolar cells were found to be increased. CONCLUSION: Results indicate the presence of melanoma-associated retinopathy (MAR), which-like carcinoma-associated retinopathy (CAR)-ranks among the tumor-associated diseases of the retina. CAR, MAR, and CSNB can be differentiated immunohistochemically by serum autoantibody determination and electrophysiologically by flash-ERG. As opposed to CAR, the immune response in the case of MAR is not to antigens of photoreceptors and ganglion cells, but to retinal so-called ON-depolarizing bipolar cells mainly connected in series to the rods. In addition, a waves are intact and b waves extinct, resembling the situation of CSNB.
A cross-sectional study was conducted to evaluate the effect of a community-based health education intervention programme and to study the determinants of night blindness in Bangladesh. The intervention programme was implemented to reduce the morbidity of nutritional blindness (night blindness) in the northern part of Bangladesh (Ranjpure district) during 1986-1989. A baseline study in 1986 covered 2010 households with a total population of 11,600, and the evaluation study in 1989 covered 2011 households with a total population of 10,456. Prevalence of night blindness was studied among children aged < 9 years in these households. The prevalence of night blindness per 1000 children was reduced significantly during the intervention period from 50.7 in 1986 to 26.7 in 1989. However, the post-intervention prevalence varied significantly between areas. Multivariate analyses showed that consumption of fish, meat, milk or eggs, dark green leaf vegetables, yellow fruits and vitamin A capsules were significant predictors of night blindness. In addition, family income, mother's literacy, family size and area of residence exhibited strong and statistically significant associations with night blindness in the 1989 cross-sectional study. The prevalence of night blindness was highest among 4-6 year old girls and 7-8 year old boys. The sex difference was, however, not statistically significant.
Most cases of night-blindness (nyctalopia or hemeralopia) do occur without an apparent organic eye-disease. In the past one spoke of essential or epidemic night-blindness. It is caused by a vitamin deficiency, and is a result of failing dark adaptation; it may lead to xerophthalmia, and finally to a complete permanent blindness, if not treated in time with vitamin A or vitamin A containing food (butter, egg-yolk, fish-liver oil). From time immemorial the healing effects of the intake of liver from fish and various animals for night-blindness has been reported from countries all over the world. In medical literature it has been recommended in the Papyrus Ebers (ca. 1500 B.C.), by the old Greek writers, from Hippocrates to Galen, and later to Oribasius and others. In the early sixteenth century Jac. Bontius (1592-1631) learned this therapy from empiric folk-medicine and advocated shark-liver as a specific medicine. Notwithstanding scattered reports of the dramatic favourable result of liver-treatment in patients with night-blindness, it would last until experimental research with a fat-poor diet led to the discovery (1913) and identification of vitamin A in our century, and the high vitamin A content of liver was established. Thus recognizing the value of the old liver-treatment, finally vitamin A was introduced in official ophthalmology. So an age-old, nearly universal favourable experience of empiric medicine had been neglected to the detriment of countless sufferers of night-blindness. Today systematic administration in cases of impending blindness, especially in some Asiatic areas, has already prevented the development of lasting blindness on a large scale.
Congenital stationary night blindness (CSNB) seems to be a very rare condition in Scandinavia. From Denmark a 7-generation family with the dominant form was published in 1909, and one family with the X-linked recessive form was reported from Norway. On going through the files of the National Eye Clinic for Visually Impaired, 7 patients were found (1 dominant, 4 X-linked recessive, 1 simplex case and 1 autosomal recessive). Including anamnestic information on relatives, 17 patients had a diagnosis of CSNB. The clinical findings in these cases are reported with stress on alteration in ERG, dark adaptation and the optic discs. The loss of oscillatory potentials in a carrier of CSNB is described. The provisional findings seem to indicate that 3 genetic variants are present in the Danish population. The real prevalence is estimated considerably higher than 17 out of 5 million.
Congenital stationary night blindness (CSNB), apparently inherited in an autosomal recessive manner, was observed in a litter of Briard dogs in Sweden. Of nine litter mates five had nyctalopia. The results of different clinical tests, including electroretinography (ERG), were compared with the results found in four human cases of CSNB, three of which were most probably associated with autosomal recessive inheritance and one with X-linked inheritance. The congenital and stationary nature of the disease, ophthalmoscopically normal appearing fundi, and recordable but reduced photopic flicker responses were some of the similarities found between canine and human cases. The single-flash ERG response was abnormal in the humans as well as in the affected Briards. However, the human cases showed a "negative' ERG, whereas in the Briards both the a and b waves were extremely reduced and present only at a photopic level. Cases similar to these Briards have been described also in man, where rhodopsin concentration and regeneration were found to be normal, suggesting a disturbed transduction mechanism. It thus appears that the Briard dog may become a valuable model of human CSNB.
Night blindness is the most common ocular condition representing moderate-to-severe vitamin A deficiency in children. Very little, however, is known about maternal night blindness, which has recently been reported to occur frequently during pregnancy in parts of south-east Asia. In Nepal, the prevalence of night blindness is reported to be 16%. We carried out an ethnographic study of night blindness during pregnancy in the south-eastern, rural plains of Nepal as preliminary research for a case-control study of the determinants of this condition. The purpose of the research was to identify local terms and concepts of night blindness and to examine women's perceptions of its causes, symptoms, severity, and consequences during pregnancy. Data collection involved in-depth interviews, case studies, unstructured observations and structured anthropologic methods, such as free listing and quick sort ranking. Women considered night blindness to be an important illness of pregnancy, ranking it second (to vaginal bleeding) in perceived severity from a list of 15 "women's illnesses". Local terms for night blindness were identified in three different languages from the region. Informants described a complex ethnomedical model of night blindness that included causes, symptomatology, and treatment alternatives. However, there was no perceived link between food intake and the occurrence of night blindness. The major causes of night blindness were attributed to pregnancy, weakness, or "hotness". Some women sought treatment for the condition but most women chose not to treat it since they believed that it was a transient condition of pregnancy. Interviews with women who had previously experienced night blindness and home-based observations of women exhibiting concurrent night blindness showed that it adversely affected their activity patterns, especially those related to child care and food preparation. Night blindness increased reliance on family members to perform various domestic chores and was also associated with personal injury and accidents. The findings of this study have relevance for women's reproductive health and nutrition throughout the Indian sub-continent. A simple history of night blindness may be a practical tool to identify women with nutritional and health risks. Maternal night blindness should be more routinely investigated in vitamin A deficient areas of the world, both to define the magnitude of the problem, and to develop programs/interventions that specifically target this population.
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IMPORTANCE: Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous inherited retinal disorder (IRD), and in many complete CSNB (cCSNB) cases, the underlying genetic cause remains unknown. Uncovering the genetic defects of IRDs helps to refine diagnostic methods and supports the development of specific therapeutic approaches. OBJECTIVE: To describe the phenotype and the underlying gene defect in patients with cCSNB from 2 unrelated families. DESIGN, SETTING AND PARTICIPANTS: This retrospective case series was conducted from January 2023 to July 2025. Data for 3 patients from cohorts of genetically unsolved IRD cases in France (n = 140 for CSNB) and the Netherlands (n = 2730 for IRD) were analyzed clinically and genetically. EXPOSURES: Complete ocular examination, including multimodal retinal imaging and full-field electroretinography (ffERG) incorporating the International Society for Clinical Electrophysiology of Vision standards and multimodal retinal imaging, were performed. Gene defects were identified by genome sequencing (GS) and exome sequencing (ES). MAIN OUTCOMES AND MEASURES: The main outcome was a gene defect, EGFLAM, underlying cCSNB. Measures included phenotyping, GS, ES, Sanger sequencing, and cosegregation analysis. RESULTS: The series included 3 patients from 2 unrelated families of Moroccan ancestry showing high myopia, reduced visual acuity, and night blindness. Retinal imaging depicted myopic changes. ffERG revealed electronegative Schubert-Bornschein configuration in keeping with cCSNB with ON-bipolar cell dysfunction. Patients were lacking pathogenic variants in known genes implicated in IRDs, including CSNB. Two different homozygous pathogenic variants, c.1563_1566del, p.(Val522Glufs*18) and c.1795C>T, p.(Arg599*) in EGFLAM were identified by ES and GS. The corresponding protein is localized in the outer plexiform layer and important for ON-bipolar cell signaling in the retina. CONCLUSION AND RELEVANCE: This case series reports on a gene defect in EGFLAM implicated in human cCSNB. Clinicians should be aware about this association and consider including EGFLAM in diagnostic gene panels for IRDs. This discovery may lead to faster and more accurate diagnosis of cCSNB and genetic counseling, as well as a pathway for developing therapies.
The occurrence of night blindness and serum vitamin A concentrations among children in rural Bangladesh were studied in relation to protein energy malnutrition, dietary habits and intake of vitamin A capsules. In 1992, 124 night-blind children were registered in a cross-sectional survey in the northern part of Bangladesh, and age-, sex- and neighbourhood-matched controls were selected. Of these, the first reported night-blind child from a household (n = 105) and their controls were included in the analyses. Our results showed that night blindness was associated with protein energy malnutrition when using the mid-upper arm circumference (MUAC) as a measure of nutritional status. The odds ratio for a confirmed diagnosis of night blindness among children with a MUAC < 80% of the reference versus normal children was 5.4 (CI 1.9-15.5). Low MUAC was associated with low intake of beta-carotene-rich and vitamin A-containing foods as well as with low serum vitamin A in the total series of cases and controls. This may indicate that night blindness is only one aspect of the general protein energy malnutrition problems in this population. We therefore suggest that measures to prevent vitamin A-related morbidity and mortality should include improvement of the general diet with increased consumption of dietary vitamin A.
Patients with congenital stationary night blindness enjoy normal daytime vision, which is mediated by cone photoreceptors, but are blind when ambient light is so dim that a normal individual would utilize only rod photoreceptors to see without colour discrimination. The disease is genetically heterogeneous. One form of dominantly inherited congenital night blindness is eponymously named "Nougaret' because pedigree analysis reveals that the disease originated in Jean Nougaret (1637-1719), a butcher who lived in Vendémian in southern France. Here we report that his affected descendants carry a missense mutation in the gene encoding the alpha subunit of rod transducin the G-protein that couples rhodopsin to cGMP-phosphodiesterase in the phototransduction cascade. Based on these results, rod transducin joins rhodopsin and the beta subunit of rod cGMP-phosphodiesterase to become the third component of the rod phototransduction cascade where a defect is implicated as a cause of stationary night blindness. Interestingly, the amino acid residue in transducin affected by the Nougaret mutation is in the position homologous to that affected by the oncogenic mutation originally reported in p21ras, a distant relative in the G-protein superfamily.
The night-blind subject examined in 1952 by Schubert and Bornschein was reexamined electrophysiologically. All findings were unchanged. Normal a, d and g-waves in the ERG indicated undisturbed receptor function. Fast and slow oscillations of the EOG were normal. The subjective darkness-adaptation curve revealed minimal scotopic function after the 14th min of adaptation. The significance of clinical and electrophysiological findings for the classification of stationary congenital night blindness is discussed. The hereditary factor appears to be the most preferable criterion for the classification of stationary congenital night blindness.
Night blindness during pregnancy caused by vitamin A deficiency is associated with an increased risk of morbidity and mortality among women. Because a history of maternal night blindness is simple and reliable to use, it is recommended as a population-based indicator of vitamin A deficiency. Furthermore, a maternal night blindness prevalence of >/=5% is recommended as a cut-off at which vitamin A deficiency may be considered to be a problem of public health significance within the community. This paper provides the justification for these recommendations. Night blindness during pregnancy is strongly associated with low serum and breast milk vitamin A concentration, abnormal conjunctival impression cytology and impaired dark adaptation, which suggests that it is a valid indicator of vitamin A deficiency. The prevalence of night blindness during pregnancy tends to be high in countries where the prevalence of xerophthalmia in children is high and in countries where interventions are in place to reduce childhood vitamin A deficiency. Existing data suggest that misclassification of self-reported maternal night blindness may account for a prevalence of up to 3%. The suggested cut-off, 5%, is set higher than this potential level of false-positive prevalence (3%). Illustrative data from India and Cambodia on childhood xerophthalmia and maternal night blindness rates are used to demonstrate the validity of using a 5% prevalence of maternal night blindness as indicative of a community vitamin A deficiency problem. Finally, it is recommended that night blindness history be elicited for a previous pregnancy that ended in a live birth in the past 3 y, using the local term for night blindness whenever possible.
This study was conducted to validate the night vision threshold test (NVTT) as an indicator of night blindness. A total of 1401 pregnant women from the National Maternity Hospital participated in this study. Women were queried about night blindness and took the NVTT using standardized procedures after 10 min of dark adaptation. Sixteen percent failed the NVTT, but only 6.4% reported having night blindness. Blood samples from women who failed the NVTT (cases) and matched controls indicated the serum vitamin A (SVA) concentration was lower (P < 0.05) in cases (1.19 +/- 0.03 micromol/L) than in controls (1.29 +/- 0.03 micromol/L). The SVA concentrations did not differ between women who reported and did not report night blindness. The SVA concentration was correlated (r = 0.22, P < 0.001) with the NVTT scores. Twenty-five percent of women with an SVA < 0.35 micromol/L reported night blindness while 100% failed the NVTT. Nineteen percent of women with an SVA < 0.70 micromol/L reported night blindness while 73% failed the NVTT. A receiver operating characteristics analysis indicated that the NVTT had greater sensitivity (0.73 vs. 0.19) and less specificity (0.51 vs. 0.87) compared with reported night blindness for women with SVA < 0.70 micromol/L and greater sensitivity (100.0 vs. 0.73) and similar specificity (0.51 vs. 0.50) for women with SVA < 0.35 micromol/L. The NVTT identified women with low SVA and self-reported night blindness was misleading. We provide a preliminary algorithm to predict the population of women with low SVA concentrations.