Cryo-EM structure of TRPM1 reveals a non-canonical architecture with an inverted transmembrane domain.

CryoEM structure of mGlu6 captures receptor activation prior to G protein coupling.

G-protein activation of the dark-state conformation of the visual G protein-coupled receptor rhodopsin by releasing critical structural constraints.

Identification and functional validation of a novel disease-causing variant in the noncoding region of NYX.

Are There Night Driving Restrictions for Patients with Incomplete Congenital Stationary Night Blindness?

EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness.

A New Gene for Congenital Stationary Night Blindness.

Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.

Pattern Electroretinography Signal Reconstruction in Rare Eye Diseases using Wavelet Transform.

Mild RPE65-Associated Inherited Retinal Dystrophies: A Multimodal Clinical and Genetic Evaluation.

Quantitative Proteomics Identifies Potential Molecular Adaptations in Mouse Models of Congenital Stationary Night Blindness Type 2.

Incomplete congenital stationary night blindness associated with a novel variant in the CACNA1F gene.

Atypical presentation of Oguchi disease with severe cystoid macular edema and compound heterozygous SAG pathogenic variants.

A mechanism for pathological oscillations in mouse retinal ganglion cells in a model of night blindness.

The physiology of dark adaptation: Progress and future directions.

Domain-specific functions of LRIT3 in synaptic assembly and retinal signal transmission.

Natural course of refractive errors in early onset inherited retinal diseases.

Novel Grm6 Variant in a no b-wave (nob) Mouse Model: Phenotype Characterization and Gene Therapy.

A Practical Introduction to Wavelet Analysis in Electroretinography.

Gene augmentation therapy treats mature mice with complete congenital stationary night blindness (cCSNB), improving retinal function and visual acuity.

Novel structural variant in CACNA1F causing congenital stationary night blindness identified with whole genome sequencing.

Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes.

Congenital Stationary Night Blindness.

Electronegative electroretinograms in two siblings with bradyopsia, an underdiagnosed pediatric inherited retinal disorder.

Trends and Disparities in the Incidence and Prevalence of Inherited Retinal Diseases in the United States.

Divergent mechanisms of neural adaptation and instability in the mammalian retina.

Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.

Genetic analysis of congenital stationary night blindness and Oguchi disease in an Indian cohort.

Review of Four Refined Clinical Entities in Hereditary Retinal Disorders from Japan.

Dark Adaptometry as a Diagnostic Tool in Retinal Diseases: Mechanisms and Clinical Utility.

Understanding the phenotype of genetically associated electronegative ERG retinopathies: comparing the full-field ERG b:a ratio.

Ȧland Island eye disease in two patients harboring novel CACNA1F variants.

A New Phenotypic Expression in a Patient With a Mutation in the CACNA1F Gene.

Gene therapy shines light on congenital stationary night blindness for future cures.

Genetic testing as a tool for diagnosis of congenital stationary night blindness (CSNB) in white spotted breeds in Poland.

Congenital Stationary Night Blindness (CSNB)-Case Reports and Review of Current Knowledge.

The negative off-response driven by M-cone and depolarizing bipolar cell in the rat electroretinogram.

Defective glycosylation and ELFN1 binding of mGluR6 congenital stationary night blindness mutants.

Novel CACNA1F pathogenic variant in pediatric incomplete X-linked CSNB: integrating portable ERG and genetic analysis.

Natural Course of Refractive Error in Congenital Stationary Night Blindness: Implications for Myopia Treatment.

Infantile Nystagmus Syndrome-Associated Inherited Retinal Diseases: Perspectives from Gene Therapy Clinical Trials.

Optic Neuropathy AFG3L2 Related in a Patient Affected by Congenital Stationary Night Blindness.

A non-conducting role of the Cav1.4 Ca2+ channel drives homeostatic plasticity at the cone photoreceptor synapse.

Cryo-EM structure of human class C orphan GPCR GPR179 involved in visual processing.

Loss of ON-Pathway Function in Mice Lacking Lrit3 Decreases Recovery From Lens-Induced Myopia.

Differential pathogenetic mechanisms of mutations in helix 2 and helix 6 of rhodopsin.

A novel homozygous nonsense variant in CABP4 causing stationary cone/rod synaptic dysfunction.

Anti-TRPM1 autoantibody-positive unilateral melanoma associated retinopathy (MAR) triggered by immunotherapy recapitulates functional and structural details of TRPM1-associated congenital stationary night blindness.

Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.

Cross-species single-cell landscapes identify the pathogenic gene characteristics of inherited retinal diseases.

Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.

Characterizing Retinal Sensitivity and Structure in Congenital Stationary Night Blindness: A Combined Microperimetry and OCT Study.

Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population.

Dark continuous noise from mutant G90D-rhodopsin predominantly underlies congenital stationary night blindness.

Diagnosis of Incomplete Congenital Stationary Night Blindness in a 2-year-old boy.

A Case of Congenital Stationary Night Blindness in a Healthy Female Infant: Emphasis on Electroretinography.

Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.

RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec.

Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of CACNA1F-Associated Retinopathy-A Case Report.

Clinical and genetic studies for a cohort of patients with congenital stationary night blindness.

Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness.

A Drosophila Model Reveals the Potential Role for mtt in Retinal Disease.

Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder.

CACNA1F-related synaptic dysfunction: challenges diagnosing congenital stationary night blindness presenting without night blindness.

Grk1 Missense Mutations in Type II Oguchi Disease: A Literature Review.

HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis.

Oguchi's disease - Clinical image.

Fundus Albipunctatus Associated with Biallelic LRAT Gene Mutation: A Case Report with Long-Term Follow-Up.

The rod synapse in aging wildtype and Dscaml1 mutant mice.

A common cause for nystagmus in different congenital stationary night blindness mouse models.

The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide.

Additional evidence supports GRM6 p.Thr178Met as a cause of congenital stationary night blindness in three horse breeds.

Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections.

A retinal origin of nystagmus-a perspective.

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.

Extended functional rescue following AAV gene therapy in a canine model of LRIT3-congenital stationary night blindness.

Canine and Feline Models of Inherited Retinal Diseases.

Cav1.4 congenital stationary night blindness is associated with an increased rate of proteasomal degradation.

Mouse all-cone retina models of Cav1.4 synaptopathy.

LRIT3 expression in cone photoreceptors restores post-synaptic bipolar cell signalplex assembly and partial function in Lrit3 -/- mice.

Characterization of two pathological gating-charge substitutions in Cav1.4 L-type calcium channels.

Whale shark rhodopsin adapted to deep-sea lifestyle by a substitution associated with human disease.

[Nystagmus in Children - a Survey].

Shedding light on myopia by studying complete congenital stationary night blindness.

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.

Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia.

Upward saccadic intrusions as the presenting feature for incomplete congenital stationary night blindness.

Congenital Stationary Night Blindness: Clinical and Genetic Features.

Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series.

Genetic analysis and clinical features of three Chinese patients with Oguchi disease.

Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration.

Delivery strategies for CRISPR/Cas genome editing tool for retinal dystrophies: challenges and opportunities.

Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.

Multimodal imaging in Schubert-Bornschein congenital stationary night blindness.

Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.

Involvement of transient receptor potential channels in ocular diseases: a narrative review.

A clinical and electrophysiological case study of a child with a novel frame shift mutation in the CACNA1F and missense variation of RIMS1 genes.

Unilateral cataract and congenital stationary night blindness in a child with novel variants in TRPM1.

Molecular basis for variations in the sensitivity of pathogenic rhodopsin variants to 9-cis-retinal.

Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness.

Phenotypes and genotypes underlying paradoxical pupillary reaction in children.

Clinical and genetic findings in TRPM1-related congenital stationary night blindness.

Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily.

SLC24A1-Associated Congenital Stationary Night Blindness in a Woman With an Abnormal Fundus.

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.

Targeting ON-bipolar cells by AAV gene therapy stably reverses LRIT3-congenital stationary night blindness.

Electronegative electroretinogram in the modern multimodal imaging era.

Posterior staphyloma with congenital stationary night blindness.

Genetic Analysis of Consanguineous Pakistani Families 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'.

Substantial restoration of night vision in adult mice with congenital stationary night blindness.

Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.

The role of voltage-gated ion channels in visual function and disease in mammalian photoreceptors.

Cav1.4 dysfunction and congenital stationary night blindness type 2.

NYX-related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism.

Two novel compound heterozygous SAG mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study.

Negative electroretinograms: genetic and acquired causes, diagnostic approaches and physiological insights.

Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients.

Oguchi's disease: two cases and literature review.

Fundus albipunctatus photoreceptor microstructure revealed using adaptive optics scanning light ophthalmoscopy.

Retinal imaging in inherited retinal diseases.

A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency.

Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients.

Panel-based genetic testing for inherited retinal disease screening 176 genes.

Restoration of mGluR6 Localization Following AAV-Mediated Delivery in a Mouse Model of Congenital Stationary Night Blindness.

Structural aspects of rod opsin and their implication in genetic diseases.

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

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.

Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.

Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.

[Decreased visual acuity as presenting sign of a late case of congenital stationary night blindness: The role of ERG].

A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment.

Function of cone and cone-related pathways in CaV1.4 IT mice.

A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.

Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.

New variants and in silico analyses in GRK1 associated Oguchi disease.

Transgenic Expression of Cacna1f Rescues Vision and Retinal Morphology in a Mouse Model of Congenital Stationary Night Blindness 2A (CSNB2A).

GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness.

Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness.

Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Cav1.4 Ca2+ channels.

Sensing through Non-Sensing Ocular Ion Channels.

A Homozygote Mutation in S-Antigen Visual Arrestin SAG Gene in an Iranian Patient with Oguchi Type One: A Case Report.

LIM-Homeodomain Transcription Factor LHX4 Is Required for the Differentiation of Retinal Rod Bipolar Cells and OFF-Cone Bipolar Subtypes.

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization.

Electronegative Electroretinograms in the United Arab Emirates.

The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.

Diagnosis of an X-linked type 2 congenital stationary night blindness using electroretinography and CACNA1F sequencing.

Genetics of Equine Ocular Disease.

Whole-genome sequencing identifies missense mutation in GRM6 as the likely cause of congenital stationary night blindness in a Tennessee Walking Horse.

Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.

Differential adaptations in rod outer segment disc membranes in different models of congenital stationary night blindness.

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

A Conserved Proline Hinge Mediates Helix Dynamics and Activation of Rhodopsin.

Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.

Large Animal Models of Inherited Retinal Degenerations: A Review.

Targeting molecular pathways for the treatment of inherited retinal degeneration.

Congenital Stationary Night Blindness due to Novel TRPM1 Gene Mutations in a Korean Patient.

Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease.

Ring analysis of multifocal oscillatory potentials (mfOPs) in cCSNB suggests near-normal ON-OFF pathways at the fovea only.

Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.

Retinal degeneration in mice expressing the constitutively active G90D rhodopsin mutant.

A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds.

Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness.

Electroretinographic abnormalities associated with pregabalin: a case report.

Nystagmus with pendular low amplitude, high frequency components (PLAHF) in association with retinal disease.

Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.

Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians.

Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness.

Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.

Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing.

An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers.

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.

Extracting the ON and OFF contributions to the full-field photopic flash electroretinogram using summed growth curves.

Molecular mechanisms underlying selective synapse formation of vertebrate retinal photoreceptor cells.

Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.

Genome-wide association study and whole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness.

Nystagmus in patients with congenital stationary night blindness (CSNB) originates from synchronously firing retinal ganglion cells.

TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations.

Presynaptic Expression of LRIT3 Transsynaptically Organizes the Postsynaptic Glutamate Signaling Complex Containing TRPM1.

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

In vivo electroretinographic differentiation of rod, short-wavelength and long/medium-wavelength cone responses in dogs using silent substitution stimuli.

Reading Individual Words Within Sentences in Infantile Nystagmus.

Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness.

Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness.

[Multimodal diagnostic of CSNB1 with NYX gene mutation].

A Mixture of U.S. Food and Drug Administration-Approved Monoaminergic Drugs Protects the Retina From Light Damage in Diverse Models of Night Blindness.

Mizuo-Nakamura phenomenon in an Indian male.

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.

Three cases of acute-onset bilateral photophobia.

Macular sensitivity in patients with congenital stationary night-blindness.

Photoreceptor degeneration in a new Cacna1f mutant mouse model.

Splicing of an automodulatory domain in Cav1.4 Ca2+ channels confers distinct regulation by calmodulin.

Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy.

Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity.

Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F.

Phenotypic characterization of complete CSNB in the inbred research beagle: how common is CSNB in research and companion dogs?