Disease: Nystagmus 1- congenital- X- linked
- A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report
- A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3
- A novel CACNA1F gene mutation causes Aland Island eye disease
- A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
- A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus
- A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus
- A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect
- A novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus
- A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree
- A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene
- A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus
- Abnormal Retinal Vessel Architecture in Albinism and Idiopathic Infantile Nystagmus
- Aetiology of infantile nystagmus
- Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus
- Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells
- Bilateral Straatsma syndrome with nystagmus
- Blue cone monochromatism
- Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster
- Bullous X linked retinoschisis: clinical features and prognosis
- Can Structural Grading of Foveal Hypoplasia Predict Future Vision in Infantile Nystagmus?: A Longitudinal Study
- Cataracts and glaucoma in patients with oculocerebrorenal syndrome
- Causes of poor eye contact in infants: a population-based study
- Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism
- Clinical characterisation of the CABP4-related retinal phenotype
- Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark
- Clinical evaluation of graded Anderson's procedure in idiopathic infantile nystagmus
- Clinical features of congenital stationary night blindness
- Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2
- Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family
- Congenital motor nystagmus linked to Xq26-q27
- 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 with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer
- Correlations of FRMD7 gene mutations with ocular oscillations
- Deletion in the OA1 gene in a family with congenital X linked nystagmus
- Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America
- Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism
- Evaluation of Metabolite Changes in the Occipital Cortex of Patients with Idiopathic Infantile Nystagmus or Bilateral Ametropic Amblyopia by Magnetic Resonance Spectroscopy
- Evidence for genetic heterogeneity in X-linked congenital stationary night blindness
- Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D
- Eye movements elevate crowding in idiopathic infantile nystagmus syndrome
- FERM domain containing protein 7 (FRMD7) upregulates the expression of neuronal cytoskeletal proteins and promotes neurite outgrowth in Neuro-2a cells
- Fetal optic nerve sheath measurement as a non-invasive tool for assessment of increased intracranial pressure
- Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus
- FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus
- Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W
- Genotype and phenotype of 101 dutch patients with congenital stationary night blindness
- Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome
- GNAT1 associated with autosomal recessive congenital stationary night blindness
- GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus
- Hereditary congenital nystagmus. A Japanese pedigree
- Heterogeneous phenotype in a family with the FERM domain-containing 7 gene R335X mutation
- Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus
- Identification of a novel <em>GPR143</em> mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability
- Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus
- Identification of a novel microdeletion causative of Nance-Horan syndrome
- Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay
- Incomplete congenital stationary night blindness (CSNB). An important differential diagnosis of congenital nystagmus
- Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome
- Introduction to genetics in ophthalmology, value of family studies
- Introduction to genetics in ophthalmology. Value of family studies
- Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus
- Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
- Linkage analysis of two families with X-linked recessive congenital motor nystagmus
- Lowe syndrome: report of one case
- Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity
- Mapping of a pedigree with congenital nystagmus
- Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom
- Neural circuit involved in idiopathic infantile nystagmus syndrome based on FMRI
- Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus
- Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus
- Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus
- Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus
- Novel Mutations in NPC1 are Associated with Pelizaeus-Merzbacher-Like Disease: A Case Report
- Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus
- Null RPGRIP1 alleles in patients with Leber congenital amaurosis
- Nystagmus in Children - a Survey
- Ocular Albinism, X-Linked – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
- Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1
- Post audio-visual biofeedback training visual functions and quality of life in paediatric idiopathic infantile nystagmus: A pilot study
- Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children
- Retinal findings in a patient of French ancestry with CABP4-related retinal disease
- Retinal microstructures are altered in patients with idiopathic infantile nystagmus
- Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC
- Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism
- Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene
- Soft Contact Lenses to Optimize Vision in Adults with Idiopathic Infantile Nystagmus: A Pilot Parallel Randomized Controlled Trial
- Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families
- The G990T mutation of the FRMD7 gene in a Chinese family with congenital idiopathic nystagmus
- The importance of genetic testing as demonstrated by two cases of <em>CACNA1F</em>-associated retinal generation misdiagnosed as LCA
- Transgenic Expression of <em>Cacna1f</em> Rescues Vision and Retinal Morphology in a Mouse Model of Congenital Stationary Night Blindness 2A (CSNB2A)
- Two-Dimensional Analysis of Horizontal and Vertical Pursuit in Infantile Nystagmus Reveals Quantitative Deficits in Accuracy and Precision
- Variable expressivity in X-linked congenital stationary night blindness
- Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations
- Visual functioning in adults with Idiopathic Infantile Nystagmus Syndrome (IINS)
- Visual Processing in Infantile Nystagmus Is Not Slow
- Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
- X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
- X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia
- X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review
- X-linked recessive congenital stationary night blindness, myopia, and tilted discs