Disease: Night blindness- congenital stationary
- <em>NYX-</em>related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism
- A <em>Drosophila</em> Model Reveals the Potential Role for <em>mtt</em> 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 <em>Gpr179</em> Deficiency
- A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency
- A non-conducting role of the Ca <sub>v</sub> 1.4 Ca <sup>2+</sup> channel drives homeostatic plasticity at the cone photoreceptor synapse
- A non-conducting role of the Ca<sub>v</sub>1.4 Ca<sup>2+</sup> 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 <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 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 <em>CACNA1F</em>-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
- Ca<sub>v</sub>1.4 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 <em>NYX</em> 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 <em>RHO</em>, 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 <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
- 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 <em>Lrit3</em> <sup><em>-/-</em></sup> mice
- 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
- 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 <em>CACNA1F</em>-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 <em>LRIT3</em>-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 <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
- 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