Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?

No abstract is available for this paper.

• Publication year

  2017

• Venue

  American journal of ophthalmology-glaucoma

• Publication date

  2017-10-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/j.ajo.2017.07.008PMID 28751151
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• ISCEV Standard for full-field clinical electroretinography (2022 update)

  2022cited by this paper
• Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia

  2015cited by this paper
• ISCEV Standard for full-field clinical electroretinography (2015 update)

  2014cited by this paper
• Retinal bipolar cells: elementary building blocks of vision

  2014cited by this paper
• CABP4 mutations do not cause congenital stationary night blindness.

  2014cited by this paper
• The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases.

  2014cited by this paper
• The Rotterdam Study: 2014 objectives and design update

  2013cited by this paper
• Genetic susceptibility and mechanisms for refractive error

  2013cited by this paper
• Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

  2013cited by this paper
• Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.

  2013cited by this paper
• Education influences the role of genetics in myopia

  2013cited by this paper
• Genes and mutations causing retinitis pigmentosa

  2013cited by this paper
• Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

  2012cited by this paper
• Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

  2012cited by this paper
• Congenital Stationary Night Blindness

  2012cited by this paper
• Genome-Wide Analysis Points to Roles for Extracellular Matrix Remodeling, the Visual Cycle, and Neuronal Development in Myopia

  2012cited by this paper
• Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature

  2012cited by this paper
• Nature and nurture: the complex genetics of myopia and refractive error

  2011cited by this paper
• The roles of ionotropic glutamate receptors along the On and Off signaling pathways in the light-adapted mouse retina.

  2011cited by this paper
• Hereditary and Clinical Features of Retinitis Pigmentosa in Koreans

  2010cited by this paper
• A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.

  2009cited by this paper
• Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.

  2009cited by this paper
• Absence seizures in C3H/HeJ and knockout mice caused by mutation of the AMPA receptor subunit Gria4

  2008cited by this paper
• The Rotterdam Study: 2010 objectives and design update

  2007cited by this paper
• Optimization of single-photon response transmission at the rod-to-rod bipolar synapse.

  2007cited by this paper
• Glutamate and Glutamate Receptors in the Vertebrate Retina

  2007cited by this paper
• The effect of genetic drift in a young genetically isolated population.

  2005cited by this paper
• Late onset is common in best macular dystrophy associated with VMD2 gene mutations.

  2005cited by this paper
• The Effect of Genetic Drift in a Young Genetically Isolated Population

  2005cited by this paper
• Linkage disequilibrium in young genetically isolated Dutch population

  2004cited by this paper
• The prevalence of refractive errors among adults in the United States, Western Europe, and Australia.

  2004cited by this paper
• Molecular identity, synaptic localization, and physiology of calcium channels in retinal bipolar cells

  2003cited by this paper
• Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa

  2003cited by this paper
• Update on the molecular genetics of retinitis pigmentosa

  2001cited by this paper
• A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.

  2000cited by this paper
• Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus

  1999cited by this paper
• The cone dystrophies

  1998cited by this paper
• A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy

  1997cited by this paper
• Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture.

  1995cited by this paper
• Refractive-error changes in kitten eyes produced by chronic on-channel blockade.

  1991cited by this paper
• X-linked retinitis pigmentosa. Profile of clinical findings.

  1988cited by this paper
• Refractive errors in patients with fundus flavimaculatus.

  1982cited by this paper
• Refractive errors of retinitis pigmentosa patients.

  1978cited by this paper
• Genetic counseling of families with Best macular dystrophy.

  1975cited by this paper

• Early-Onset Cone Photoreceptor Degeneration Is Associated With High Myopia in RPGR-Related Retinal Dystrophy

  2025cites this paper
• Transcriptome Sequencing Reveals ceRNA Networks and Molecular Signatures in Myopic Mouse Retina

  2025cites this paper
• Natural course of refractive errors in early onset inherited retinal diseases

  2025influential citation
• Axial Length Profiles in Inherited Retinal Diseases—A Genotypic and Phenotypic Analysis

  2025cites this paper
• A New Gene for Congenital Stationary Night Blindness.

  2025cites this paper
• Secondary Ophthalmic Features Represent Diagnostic Clues and Potential Points of Intervention for Inherited Retinal Diseases (Target 5000 Report 3)

  2025influential citation
• Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review

  2025cites this paper
• Congenital Stationary Night Blindness (CSNB)—Case Reports and Review of Current Knowledge

  2025cites this paper
• Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population

  2025cites this paper
• Reduction of photoreceptor cell packing density in low or moderative myopia detected with adaptive optics scanning laser ophthalmoscopy.

  2025cites this paper
• The Exponential Constriction Model of the Ellipsoid Zone in Taiwanese Individuals With RPGR-Related X-Linked Retinitis Pigmentosa

  2025cites this paper
• Refractive errors in patients with Bardet Biedl syndrome

  2024cites this paper
• A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR)

  2024cites this paper
• Genetic and clinical diagnosis of a Chinese family with incomplete congenital stationary night blindness caused by a novel CACNA1F mutation

  2024cites this paper
• Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis

  2024cites this paper
• Optical Strategy Utilizing Contrast Modulation to Slow Myopia

  2024cites this paper
• Natural Course of Refractive Error in Congenital Stationary Night Blindness: Implications for Myopia Treatment

  2024cites this paper
• The Electroretinogram I-Wave, a Component Originating in the Retinal OFF-Pathway, Associates With a Myopia Genetic Risk Polymorphism

  2024cites this paper
• Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study

  2024cites this paper
• The incidence of visual impairment due to retinitis pigmentosa has declined in Finland over the last 40 years

  2024cites this paper
• Temporal Regulation of Myopia and Inflammation-Associated Pathways in the Interphotoreceptor Retinoid-Binding Protein Knockout Mouse Model

  2024cites this paper
• Refractive Error in Inherited Retinal Disease.

  2024cites this paper
• Relationship between genotype, phenotype, and refractive status in patients of inherited retinal degeneration

  2024cites this paper
• Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study

  2024cites this paper
• Diurnal gene expression patterns in retina and choroid distinguish myopia progression from myopia onset

  2024cites this paper
• Insights into Myopia from Mouse Models

  2024cites this paper
• Congenital Stationary Night Blindness

  2024cites this paper
• Frequency and distribution of ophthalmic surgical procedures among patients with inherited retinal diseases.

  2024cites this paper
• Clinical and genetic studies for a cohort of patients with congenital stationary night blindness

  2024cites this paper
• Screening Mutations of the Monogenic Syndromic High Myopia by Whole Exome Sequencing From MAGIC Project

  2024cites this paper
• Unusual OCT findings in a patient with CABP4-associated cone–rod synaptic disorder

  2024cites this paper
• Diurnal retinal and choroidal gene expression patterns support a role for circadian biology in myopia pathogenesis

  2024cites this paper
• Myopia control in Mendelian forms of myopia

  2023cites this paper
• Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families

  2023cites this paper
• PREVALENCE AND CLINICAL FEATURES OF RADIAL FUNDUS AUTOFLUORESCENCE IN HIGH MYOPIC WOMEN

  2023cites this paper
• Single‐cell RNA sequencing of retina revealed novel transcriptional landscape in high myopia and underlying cell‐type‐specific mechanisms

  2023cites this paper
• The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood.

  2023cites this paper
• Visual function in children with Joubert syndrome

  2023cites this paper
• Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review

  2023cites this paper
• Multidisciplinary approach to inherited causes of dual sensory impairment

  2023cites this paper
• IMI—Management and Investigation of High Myopia in Infants and Young Children

  2023cites this paper
• A Genome-Wide Association Study for Susceptibility to Axial Length in Highly Myopic Eyes

  2022cites this paper
• Genetic disorders causing non-syndromic retinopathy

  2022cites this paper
• Genetics in High Myopia

  2022cites this paper
• Whole exome sequencing of known eye genes reveals genetic causes for high myopia

  2022cites this paper
• Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia

  2022cites this paper
• Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

  2022cites this paper
• MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone

  2022cites this paper
• Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes

  2022cites this paper
• The Role of Retinal Dysfunction in Myopia Development

  2022cites this paper
• Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders

  2021cites this paper
• Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review

  2021cites this paper
• Optic Disc Drusen & a Constellation of Other Features of Retinitis Pigmentosa: A Case Report

  2021cites this paper
• Consortium for Refractive Error and Myopia (CREAM): Vision, Mission, and Accomplishments

  2021cites this paper
• Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination

  2021cites this paper
• Functional integration of eye tissues and refractive eye development: Mechanisms and pathways.

  2021cites this paper
• Retinitis Pigmentosa and Allied Diseases

  2021cites this paper
• Prediction of Function in ABCA4-Related Retinopathy Using Ensemble Machine Learning

  2020cites this paper
• Retinal Dystrophies and the Road to Treatment: Clinical Requirements and Considerations

  2020cites this paper
• Cycloplegic refractions in a cohort with ABCA4-related retinopathy

  2020cites this paper
• Updates on Myopia: A Clinical Perspective

  2020cites this paper
• Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia

  2020cites this paper
• Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy.

  2020cites this paper
• Predominance of hyperopia in autosomal dominant Best vitelliform macular dystrophy

  2020cites this paper
• The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline

  2020cites this paper
• The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.

  2020cites this paper
• Calcium Sensors in Neuronal Function and Dysfunction.

  2019cites this paper
• Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness

  2019cites this paper
• The Genetics of Myopia

  2019cites this paper
• Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa

  2019cites this paper
• The Increasing Burden of Myopia in Israel among Young Adults over a Generation: Analysis of Predisposing Factors.

  2019cites this paper
• Don't Miss This! Red Flags in the Pediatric Eye Examination: Subnormal Acuity

  2019cites this paper
• Altered ocular parameters from circadian clock gene disruptions

  2019cites this paper
• Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

  2019cites this paper
• The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy

  2019cites this paper
• IMI – Myopia Genetics Report

  2019cites this paper
• Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late‐onset high myopia based on exome sequencing

  2018cites this paper
• Potential Mutations in Chinese Pathologic Myopic Patients and Contributions to Phenotype

  2018cites this paper
• Short term optical defocus perturbs normal developmental shifts in retina/RPE protein abundance

  2018cites this paper
• The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.

  2018cites this paper
• Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children

  2018cites this paper
• Non‐syndromic retinitis pigmentosa

  2018cites this paper
• The retina/RPE proteome in chick myopia and hyperopia models: Commonalities with inherited and age-related ocular pathologies

  2017cites this paper