PURPOSE This study was undertaken to investigate the causal mutations responsible for autosomal recessive congenital stationary night blindness (CSNB) in consanguineous Pakistani families. METHODS Two consanguineous families with multiple individuals manifesting symptoms of stationary night blindness were recruited. Affected individuals underwent a detailed ophthalmological examination, inclu...

Vitamin A deficiency (VAD) can cause a range of ocular manifestations, including night blindness, conjunctival and corneal xerosis and keratomalacia. It is an important cause of preventable blindness. Although usually a result of malnutrition, VAD can accompany malabsorption syndrome. We report a case of VAD as manifested by Bitot's spots and eventually diagnosed to have celiac disease. It is, ...

BACKGROUND Calcium binding protein 4 (CABP4), specifically located in photoreceptor synaptic terminals, has been associated with congenital stationary night blindness based on this clinical diagnosis being made for three individuals from two Swiss families with CABP4 mutations; however, the few reported cases limit phenotype-genotype correlation. We expand the number of reported patients with C...

Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impaired night vision and variable decreased visual acuity. We report here that six out of eight female probands with autosomal-recessive complete CSNB (cCSNB) had mutations in TRPM1, a retinal transient receptor potential (TRP) cation channel gen...

PURPOSE Mutations in RHO, PDE6B, and GNAT1 can lead to autosomal dominant congenital stationary night blindness (adCSNB). The study was conducted to identify the genetic defect in a large Swiss family affected with adCSNB and to investigate the pathogenic mechanism of the mutation. METHODS Two affected cousins of a large Swiss family were examined clinically by standard methods: funduscopy, E...

underlying visual processing in dim light is well conserved. Individual rod photoreceptors, themselves capable of reliably signaling the absorption of individual photons (6, 9), are pooled in a specialized circuitry referred to as the rod bipolar pathway (17, 49). Following a series of convergent connections in this pathway, the ganglion cells, which are the output cells of the retina, send sig...

PURPOSE To describe the finding of a novel calcium binding protein 4 (CABP4) mutation in a family with Leber congenital amaurosis (LCA) phenotype. METHODS Homozygosity mapping was performed in a consanguineous family with four affected members originally referred as cases of LCA. Detailed electroretinographic recordings were obtained. RESULTS A novel homozygous single base-pair insertion wa...

Sixteen U.S. Army aviators, who were given training on focus adjustment technique with aviator night vision goggles (NVG), showed an improvement in visual acuity with focus adjustment compared to a fixed infinity focus control. The long-term effect of focus adjustment on vision was not measured; however, adjustment accuracy was found to be generally within acceptable limits based on computer mo...

Twenty five symptomatic individuals and six asymptomatic obligate gene carriers from four families with autosomal dominant retinitis pigmentosa (adRP) showing apparent incomplete penetrance have been studied. Symptomatic individuals from three families showed early onset of night blindness, non-recordable rod electroretinograms, and marked elevation of both rod and cone thresholds in all subjec...

INTRODUCTION Progressive night blindness and constriction of the visual fields are features of Bietti crystalline corneoretinal dystrophy, but here we report a case with the most probable diagnosis of Bietti crystalline dystrophy and good central visual acuity and severely decreased electroretinogram. CASE PRESENTATION The patient was a 28-year-old woman with complaint of decreased vision wit...