Disease: Night blindness- congenital stationary
- <em>NYX-</em>related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism
- A 5-year-old Syrian female was born with Oguchi disease: a rare case report
- A Case of Congenital Stationary Night Blindness in a Healthy Female Infant: Emphasis on Electroretinography
- A clinical and electrophysiological case study of a child with a novel frame shift mutation in the CACNA1F and missense variation of RIMS1 genes
- A common cause for nystagmus in different congenital stationary night blindness mouse models
- A New Mouse Model for Complete Congenital Stationary Night Blindness Due to <em>Gpr179</em> Deficiency
- A novel missense creatine mutant of <em>CaBP4</em>, c.464G>A (p.G155D), associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), reduces the expression of CaBP4
- A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy
- A Novel Splice-Site Variant in <em>CACNA1F</em> Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness
- Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of <em>CACNA1F</em>-Associated Retinopathy-A Case Report
- An Ashkenazi Jewish founder mutation in <em>CACNA1F</em> causes retinal phenotype in both hemizygous males and heterozygous female carriers
- Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling
- Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells
- Ca<sub>v</sub>1.4 congenital stationary night blindness is associated with an increased rate of proteasomal degradation
- Canine and Feline Models of Inherited Retinal Diseases
- Cav1.4 dysfunction and congenital stationary night blindness type 2
- Characterization of two pathological gating-charge substitutions in Cav1.4 L-type calcium channels
- Clinical and genetic findings in TRPM1-related congenital stationary night blindness
- Clinical and genetic studies for a cohort of patients with congenital stationary night blindness
- Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy
- Comments on 'Whole-genome sequencing identifies missense mutation in GRM6 as the likely cause of congenital stationary night blindness in a Tennessee Walking Horse'
- Complete congenital stationary night blindness associated with a novel <em>NYX</em> variant (p.Asn216Lys) in middle-aged and older adult patients
- Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies
- Congenital Stationary Night Blindness
- Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F
- Congenital Stationary Night Blindness due to Novel <em>TRPM1</em> Gene Mutations in a Korean Patient
- Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in <em>TRPM1</em>
- Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia
- Congenital Stationary Night Blindness: Clinical and Genetic Features
- Correlation between the Serum Concentration of Vitamin A and Disease Severity in Patients Carrying p.G90D in <em>RHO</em>, the Most Frequent Gene Associated with Dominant Retinitis Pigmentosa: Implications for Therapy with Vitamin A
- Decreased visual acuity as presenting sign of a late case of congenital stationary night blindness: The role of ERG
- Delivery strategies for CRISPR/Cas genome editing tool for retinal dystrophies: challenges and opportunities
- Different Activity Patterns in Retinal Ganglion Cells of TRPM1 and mGluR6 Knockout Mice
- Differential adaptations in rod outer segment disc membranes in different models of congenital stationary night blindness
- Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness
- Electronegative electroretinogram in the modern multimodal imaging era
- Electronegative Electroretinograms in the United Arab Emirates
- Extended functional rescue following AAV gene therapy in a canine model of LRIT3-congenital stationary night blindness
- Extracting the ON and OFF contributions to the full-field photopic flash electroretinogram using summed growth curves
- Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Ca<sub>v</sub>1.4 Ca<sup>2+</sup> channels
- Genetic analysis and clinical features of three Chinese patients with Oguchi disease
- Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness
- Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort
- Genome-wide association study and whole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness
- HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis
- Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness
- Identification of a novel large multigene deletion and a frameshift indel in <em>PDE6B</em> as the underlying cause of early-onset recessive rod-cone degeneration
- Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily
- In vivo electroretinographic differentiation of rod, short-wavelength and long/medium-wavelength cone responses in dogs using silent substitution stimuli
- Influenza-associated thrombotic thrombocytopenic purpura: A report of two cases and a brief review of the literature
- Involvement of transient receptor potential channels in ocular diseases: a narrative review
- ISCEV extended protocol for the stimulus-response series for light-adapted full-field ERG
- Long-term follow-up of retinal function and structure in <em>TRPM1</em>-associated complete congenital stationary night blindness
- Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
- LRIT3 expression in cone photoreceptors restores post-synaptic bipolar cell signalplex assembly and partial function in <em>Lrit3</em> <sup><em>-/-</em></sup> mice
- Macular sensitivity in patients with congenital stationary night-blindness
- Melatonin attenuates chronic sleep deprivation-induced cognitive deficits and HDAC3-Bmal1/clock interruption
- Mice Lacking <em>Gpr179</em> with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia
- Molecular basis for variations in the sensitivity of pathogenic rhodopsin variants to 9-cis-retinal
- Mouse all-cone retina models of Cav1.4 synaptopathy
- Multimodal diagnostic of CSNB1 with NYX gene mutation
- Multimodal imaging in Schubert-Bornschein congenital stationary night blindness
- Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease
- Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes
- Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness
- Novel frameshift mutation in <em>NYX</em> gene in a Russian family with complete congenital stationary night blindness
- Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy
- Nystagmus in Children - a Survey
- Nystagmus in patients with congenital stationary night blindness (CSNB) originates from synchronously firing retinal ganglion cells
- Optic Atrophy and Inner Retinal Thinning in <em>CACNA1F</em>-related Congenital Stationary Night Blindness
- Optic nerve involvement in <em>CACNA1F</em>-related disease: observations from a multicentric case series
- Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization
- Phenotypes and genotypes underlying paradoxical pupillary reaction in children
- Phenotypic characterization of complete CSNB in the inbred research beagle: how common is CSNB in research and companion dogs?
- Posterior staphyloma with congenital stationary night blindness
- Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing
- Response to comments on 'Whole-genome sequencing identifies missense mutation in GRM6 as the likely cause of congenital stationary night blindness in a Tennessee Walking Horse'
- Restoration of mGluR6 Localization Following AAV-Mediated Delivery in a Mouse Model of Congenital Stationary Night Blindness
- Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association
- Ring analysis of multifocal oscillatory potentials (mfOPs) in cCSNB suggests near-normal ON-OFF pathways at the fovea only
- rTMS reduces spatial learning and memory deficits induced by sleep deprivation possibly via suppressing the expression of kynurenine 3-monooxygenase in rats
- Sensing through Non-Sensing Ocular Ion Channels
- Shedding light on myopia by studying complete congenital stationary night blindness
- SLC24A1-Associated Congenital Stationary Night Blindness in a Woman With an Abnormal Fundus
- Structural aspects of rod opsin and their implication in genetic diseases
- Substantial restoration of night vision in adult mice with congenital stationary night blindness
- Targeting ON-bipolar cells by AAV gene therapy stably reverses <em>LRIT3</em>-congenital stationary night blindness
- The impact of ambient air pollutants on childhood respiratory system disease and the resulting disease burden: a time-series study
- The rod synapse in aging wildtype and Dscaml1 mutant mice
- The role of voltage-gated ion channels in visual function and disease in mammalian photoreceptors
- Three cases of acute-onset bilateral photophobia
- Transgenic Expression of <em>Cacna1f</em> Rescues Vision and Retinal Morphology in a Mouse Model of Congenital Stationary Night Blindness 2A (CSNB2A)
- TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations
- Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness
- Two novel compound heterozygous <em>SAG</em> mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study
- Unilateral cataract and congenital stationary night blindness in a child with novel variants in TRPM1
- Upward saccadic intrusions as the presenting feature for incomplete congenital stationary night blindness
- Whale shark rhodopsin adapted to deep-sea lifestyle by a substitution associated with human disease
- Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders
- Whole-genome sequencing identifies missense mutation in GRM6 as the likely cause of congenital stationary night blindness in a Tennessee Walking Horse