Research By Disease – CheckOrphan

Disease: Night blindness- congenital stationary

NYX-related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism
A Drosophila Model Reveals the Potential Role for mtt in Retinal Disease
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 Gpr179 Deficiency
A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency
A non-conducting role of the Ca v 1.4 Ca 2+ channel drives homeostatic plasticity at the cone photoreceptor synapse
A non-conducting role of the Cav1.4 Ca2+ channel drives homeostatic plasticity at the cone photoreceptor synapse
A novel homozygous nonsense variant in CABP4 causing stationary cone/rod synaptic dysfunction
A novel missense creatine mutant of CaBP4, 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 retinal origin of nystagmus-a perspective
Additional evidence supports GRM6 p.Thr178Met as a cause of congenital stationary night blindness in three horse breeds
Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of CACNA1F-Associated Retinopathy-A Case Report
Anti-TRPM1 autoantibody-positive unilateral melanoma associated retinopathy (MAR) triggered by immunotherapy recapitulates functional and structural details of TRPM1-associated congenital stationary night blindness
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(v)1.4 congenital stationary night blindness is associated with an increased rate of proteasomal degradation
Cav1.4 congenital stationary night blindness is associated with an increased rate of proteasomal degradation
CACNA1F-related synaptic dysfunction: challenges diagnosing congenital stationary night blindness presenting without night blindness
Canine and Feline Models of Inherited Retinal Diseases
Cav1.4 dysfunction and congenital stationary night blindness type 2
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study
Characterization of two pathological gating-charge substitutions in Cav1.4 L-type calcium channels
Characterizing Retinal Sensitivity and Structure in Congenital Stationary Night Blindness: A Combined Microperimetry and OCT Study
Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients
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
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 NYX variant (p.Asn216Lys) in middle-aged and older adult patients
Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients
Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness
Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1
Congenital Stationary Night Blindness Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients
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 RHO, the Most Frequent Gene Associated with Dominant Retinitis Pigmentosa: Implications for Therapy with Vitamin A
Cross-species single-cell landscapes identify the pathogenic gene characteristics of inherited retinal diseases
Dark continuous noise from mutant G90D-rhodopsin predominantly underlies congenital stationary night blindness
Delivery strategies for CRISPR/Cas genome editing tool for retinal dystrophies: challenges and opportunities
Diagnosis of Incomplete Congenital Stationary Night Blindness in a 2-year-old boy
Electronegative electroretinogram in the modern multimodal imaging era
Extended functional rescue following AAV gene therapy in a canine model of LRIT3-congenital stationary night blindness
Fundus Albipunctatus Associated with Biallelic LRAT Gene Mutation: A Case Report with Long-Term Follow-Up
Fundus albipunctatus photoreceptor microstructure revealed using adaptive optics scanning light ophthalmoscopy
Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections
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
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis
HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis
Identification of a novel large multigene deletion and a frameshift indel in PDE6B 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
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
LRIT3 expression in cone photoreceptors restores post-synaptic bipolar cell signalplex assembly and partial function in Lrit3 -/- mice
Melatonin attenuates chronic sleep deprivation-induced cognitive deficits and HDAC3-Bmal1/clock interruption
Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia
Mice Lacking Gpr179 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 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
Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population
Negative electroretinograms: genetic and acquired causes, diagnostic approaches and physiological insights
Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes
Nystagmus in Children - a Survey
NYX-related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism
Oguchi's disease - Clinical image
Oguchi's disease: two cases and literature review
Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series
Panel-based genetic testing for inherited retinal disease screening 176 genes
Phenotypes and genotypes underlying paradoxical pupillary reaction in children
Posterior staphyloma with congenital stationary night blindness
RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes
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
Retinal imaging in inherited retinal diseases
RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec
rTMS reduces spatial learning and memory deficits induced by sleep deprivation possibly via suppressing the expression of kynurenine 3-monooxygenase in rats
Shedding light on myopia by studying complete congenital stationary night blindness
SLC24A1-Associated Congenital Stationary Night Blindness in a Woman With an Abnormal Fundus
Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene
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 LRIT3-congenital stationary night blindness
Targeting ON-bipolar cells by AAV gene therapy stably reverses LRIT3-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
The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide
Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness
Two novel compound heterozygous SAG 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
Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder
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
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration