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Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessWhole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophyNMNAT1 mutations cause Leber congenital amaurosisLrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)Seven new loci associated with age-related macular degeneration.Autofluorescence imaging in a case of benign familial fleck retina.Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2Foveal damage in habitual poppers users.A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindnessCongenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosaSpectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patientsTargeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophyClinical characteristics and current therapies for inherited retinal degenerationsMutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.Genotypic and phenotypic characterization of P23H line 1 rat model.Current challenges of ophthalmology in FranceNext-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial.Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights.A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation.A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night BlindnessDisease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.Mutations in IMPG1 cause vitelliform macular dystrophies.Test-Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial.An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsMosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohortLRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells.RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.Retinal and cochlear toxicity of drugs: new insights into mechanisms and detection.Retinal toxicity after intracameral use of a standard dose of cefuroxime during cataract surgery.Genotyping microarray for CSNB-associated genes.Adult-onset foveomacular vitelliform dystrophy: A fresh perspective.Functional and high-resolution retinal imaging monitoring photoreceptor damage in acute macular neuroretinopathy.
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