Congenital stationary night blindness (CSNB) is an inherited and non-progressive retinal dysfunction. Here, we present the crystal structure of CSNB-causing T94I2.61 rhodopsin in the active conformation at 2.3 Å resolution. The introduced hydrophobic side chain prolongs the lifetime of the G protein activating metarhodopsin-II state by establishing a direct van der Waals contact with K2967.43, ...

purpose: to report an iranian patient with diagnosis of oguchi disease associated with diabetic retinopathy. methods: a 50-year-old diabetic woman with night blindness was referred to our clinic. complete ophthalmic examination including ophthalmoscopy after dark adaptation and paraclinic evaluations such as fluorescein angiography and electroretinography were performed. results: in the both ey...

We report the case of an 18-year-old male who developed both nutritional amblyopia and night blindness. After nearly a lifetime of consuming a bizarre diet limited to French fries, pretzels, crackers, and carbonated sodas, he had a relatively sudden onset of night blindness and bilateral visual loss. The night blindness resolved after taking daily oral vitamin A supplements. Visual acuity gradu...

This is the first report of benign adult familial myoclonic epilepsy (BAFME) with night blindness. Our cases of BAFME (mother, son, and daughter) demonstrated night blindness with a reduced b-wave response on electroretinography (ERG) suggesting an alteration in calcium-mediated neurotransmitter release from photoreceptors in response to light. Several familial epilepsies have been shown to be ...

It was shown preciously that the physiological basis of congenital night blindness probably involves a defect in neural transmission affecting primarily the scotopic (rod) mechanism. However, spectral sensitivity measurements in the dark-adapted peripheral retina indicate that rod signals, although greatly attenuated, may reach cortical centers. In spite of the decreased sensitivity, measuremen...

Submit Manuscript | http://medcraveonline.com months [6-9] to years [10]. Secondly, subjects that develop night blindness may be cured within hours or took months to return to normal. Second problem raises other issues and complications. The visual pigments are composed of vitamin a aldehyde (retinene) joined to specific proteins of the rods and cones called “opsins.” Limited amounts of visual ...

PURPOSE Mutations in the alpha(1F) subunit of voltage-dependent calcium channels (VDCCs) have been shown to cause incomplete congenital stationary night blindness (CSNB2). The purpose of this study was to dentify which of the four beta subunits of VDCCs participates in the formation of this channel at the photoreceptor synapse and to determine how its absence affects visual processing. METHOD...

PURPOSE To provide electroretinographic differentiation between 4 genetically distinct conditions associated with a negative. Schubert Bornschein type electroretinogram (ERG): Complete congenital stationary night blindness (cCSNB), incomplete CSNB (incCSNB), Duchenne muscular dystrophy, and a family with an autosomal dominantly inherited negative ERG. METHODS ERGs were recorded in all subject...

Purpose Mutations in LRIT3 lead to complete congenital stationary night blindness (cCSNB). Using a cCSNB mouse model lacking Lrit3 (nob6), we recently have shown that LRIT3 has a role in the correct localization of TRPM1 (transient receptor potential melastatin 1) to the dendritic tips of ON-bipolar cells (BCs), contacting both rod and cone photoreceptors. Furthermore, postsynaptic clustering o...