The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood

Myopia Genetics and Heredity

(2022) Yu-Meng Wang et al.   Children-Basel

Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma

(2022) Philippa Harding et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Identification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation

(2021) Swanand Koli et al.   PLoS Genetics

Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia

(2021) J. Willem L. Tideman et al.   JAMA Ophthalmology

Novel BMP4 Truncations Resulted in Opposite Ocular Anomalies: Pathologic Myopia Rather Than Microphthalmia

(2021) Yi Jiang et al.   Frontiers in Cell and Developmental Biology

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

(2020) Owen M. Siggs et al.   CLINICAL GENETICS

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

(2020) Basamat Almoallem et al.   Scientific Reports

Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia

(2020) Pirro G. Hysi et al.   NATURE GENETICS

The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification

(2020) Sally H. Cross et al.   PLoS Genetics

Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort

(2020) Lev Prasov et al.   Scientific Reports

The Oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders

(2019) Aara Patel et al.   OPHTHALMOLOGY

An overview of myopia genetics

(2019) Xue-Bi Cai et al.   EXPERIMENTAL EYE RESEARCH

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

(2019) Kathleen A. Williamson et al.   GENETICS IN MEDICINE

Laminin β2 Chain Regulates Retinal Progenitor Cell Mitotic Spindle Orientation via Dystroglycan

(2018) Dmitri Serjanov et al.   JOURNAL OF NEUROSCIENCE

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

(2018) Milly S. Tedja et al.   NATURE GENETICS

Cell Behaviors during Closure of the Choroid Fissure in the Developing Eye

(2018) Gaia Gestri et al.   Frontiers in Cellular Neuroscience

Nanophthalmos: A Review of the Clinical Spectrum and Genetics

(2018) Pedro C. Carricondo et al.   Journal of Ophthalmology

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing

(2018) Diana Matías-Pérez et al.   JOURNAL OF HUMAN GENETICS

Environmental Risk Factors Can Reduce Axial Length Elongation and Myopia Incidence in 6- to 9-Year-Old Children

(2018) J. Willem L. Tideman et al.   OPHTHALMOLOGY

Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmia

(2018) Anne Slavotinek   HUMAN GENETICS

Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches

(2017) Rose Richardson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia

(2017) Zi-Bing Jin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients

(2017) Chun-Yun Feng et al.   Scientific Reports

Coordinated Morphogenetic Mechanisms Shape the Vertebrate Eye

(2017) Juan-Ramon Martinez-Morales et al.   Frontiers in Neuroscience

Gene Therapy Restores Mfrp and Corrects Axial Eye Length

(2017) Gabriel Velez et al.   Scientific Reports

The zebrafish eye—a paradigm for investigating human ocular genetics

(2016) R Richardson et al.   EYE

Detection and interpretation of shared genetic influences on 42 human traits

(2016) Joseph K Pickrell et al.   NATURE GENETICS

Global Prevalence of Myopia and High Myopia and Temporal Trends from 2000 through 2050

(2016) Brien A. Holden et al.   OPHTHALMOLOGY

Exploration and detection of potential regulatory variants in refractive error GWAS

(2016) Xuan Liao et al.   Scientific Reports

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

(2015) Brett Deml et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

High-hyperopia database, part I: clinical characterisation including morphometric (biometric) differentiation of posterior microphthalmos from nanophthalmos

(2015) N Relhan et al.   EYE

Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia

(2015) Hui Guo et al.   GENETICS IN MEDICINE

Increasing Prevalence of Myopia in Europe and the Impact of Education

(2015) Katie M. Williams et al.   OPHTHALMOLOGY

Genetic regulation of vertebrate eye development

(2014) J.L. Zagozewski et al.   CLINICAL GENETICS

The cellular and molecular mechanisms of vertebrate lens development

(2014) A. Cvekl et al.   DEVELOPMENT

The genetic architecture of microphthalmia, anophthalmia and coloboma

(2014) Kathleen A. Williamson et al.   European Journal of Medical Genetics

Epidemiology of myopia

(2014) P J Foster et al.   EYE

Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing

(2014) D. Jiang et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

SLC39A5mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia

(2014) Hui Guo et al.   JOURNAL OF MEDICAL GENETICS

Recessive Mutations inLEPREL1Underlie a Recognizable Lens Subluxation Phenotype

(2014) Arif O. Khan et al.   OPHTHALMIC GENETICS

Gene Profiling of Postnatal Mfrprd6 Mutant Eyes Reveals Differential Accumulation of Prss56, Visual Cycle and Phototransduction mRNAs

(2014) Ramani Soundararajan et al.   PLoS One

Mutation inTMEM98in a Large White Kindred With Autosomal Dominant Nanophthalmos Linked to 17p12-q12

(2014) Mona S. Awadalla et al.   JAMA Ophthalmology

Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds

(2013) Rosemarie A. Wasmann et al.   ACTA OPHTHALMOLOGICA

Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

(2013) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

(2013) Mohammed A. Aldahmesh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in SCO2 Are Associated with Autosomal-Dominant High-Grade Myopia

(2013) Khanh-Nhat Tran-Viet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia

(2013) Shipra Bhatia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Epidemiology and Disease Burden of Pathologic Myopia and Myopic Choroidal Neovascularization: An Evidence-Based Systematic Review

(2013) Tien Y. Wong et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

(2013) N. Chassaing et al.   CLINICAL GENETICS

Homozygous loss-of-function mutation of theLEPREL1gene causes severe non-syndromic high myopia with early-onset cataract

(2013) H. Guo et al.   CLINICAL GENETICS

Whole-genome copy number variation analysis in anophthalmia and microphthalmia

(2013) KF Schilter et al.   CLINICAL GENETICS

Investigating mechanisms of myopia in mice

(2013) Machelle T. Pardue et al.   EXPERIMENTAL EYE RESEARCH

Pharmacology of myopia and potential role for intrinsic retinal circadian rhythms

(2013) Richard A. Stone et al.   EXPERIMENTAL EYE RESEARCH

Exome sequencing reveals CCDC111 mutation associated with high myopia

(2013) Fuxin Zhao et al.   HUMAN GENETICS

A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population

(2013) Y. Shi et al.   HUMAN MOLECULAR GENETICS

Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia

(2013) Chiea Chuen Khor et al.   HUMAN MOLECULAR GENETICS

An eye on eye development

(2013) Rebecca Sinn et al.   MECHANISMS OF DEVELOPMENT

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

(2013) Virginie J M Verhoeven et al.   NATURE GENETICS

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Genome-Wide Analysis Points to Roles for Extracellular Matrix Remodeling, the Visual Cycle, and Neuronal Development in Myopia

(2013) Amy K. Kiefer et al.   PLoS Genetics

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

(2013) Christina Gerth-Kahlert et al.   Molecular Genetics & Genomic Medicine

Compartmentalization of vertebrate optic neuroephithelium: External cues and transcription factors

(2012) Hyoung-Tai Kim et al.   MOLECULES AND CELLS

Pax6: A multi-level regulator of ocular development

(2012) Ohad Shaham et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Genetic Variants on Chromosome 1q41 Influence Ocular Axial Length and High Myopia

(2012) Qiao Fan et al.   PLoS Genetics

Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease

(2011) Andreas Gal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2

(2011) Shikma Mordechai et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos

(2011) Juan Carlos Zenteno et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Discovery and assessment of conserved Pax6 target genes and enhancers

(2011) Pedro Coutinho et al.   GENOME RESEARCH

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

(2011) Linda M. Reis et al.   HUMAN GENETICS

First implication ofSTRA6mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to theSTRA6phenotype

(2011) Jillian Casey et al.   HUMAN MUTATION

Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice

(2011) K Saidas Nair et al.   NATURE GENETICS

Anophthalmos, Microphthalmos, and Coloboma in the United Kingdom: Clinical Features, Results of Investigations, and Early Management

(2011) Shaheen P. Shah et al.   OPHTHALMOLOGY

Exome Sequencing Identifies ZNF644 Mutations in High Myopia

(2011) Yi Shi et al.   PLoS Genetics

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

(2010) KF Schilter et al.   CLINICAL GENETICS

A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25

(2010) Pirro G Hysi et al.   NATURE GENETICS

Genome-Wide Association Studies Reveal Genetic Variants in CTNND2 for High Myopia in Singapore Chinese

(2010) Yi-Ju Li et al.   OPHTHALMOLOGY

OPHTHALMIC CHANGES FROM AGE OF 10 TO 18 YEARS

(2009) HANS C. FLEDELIUS   ACTA OPHTHALMOLOGICA

Phenotypic spectrum ofSTRA6mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

(2009) Nicolas Chassaing et al.   HUMAN MUTATION

Cell-Autonomous Requirement for Rx Function in the Mammalian Retina and Posterior Pituitary

(2009) Olga Medina-Martinez et al.   PLoS One

Prolyl 4-hydroxylases, key enzymes in the synthesis of collagens and regulation of the response to hypoxia, and their roles as treatment targets

(2008) Johanna Myllyharju   ANNALS OF MEDICINE

The role of the lens in refractive development of the eye: Animal models of ametropia

(2008) Jacob G. Sivak   EXPERIMENTAL EYE RESEARCH

Retinal and choroidal TGF-β in the tree shrew model of myopia: Isoform expression, activation and effects on function

(2008) Andrew Ian Jobling et al.   EXPERIMENTAL EYE RESEARCH

Novel heterozygousOTX2mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma

(2008) Alexander Wyatt et al.   HUMAN MUTATION

Posterior Microphthalmos Versus Nanophthalmos

(2008) Arif O. Khan   OPHTHALMIC GENETICS

Developmental Basis of Nanophthalmos:MFRPIs Required for both Prenatal Ocular Growth and Postnatal Emmetropization

(2008) Olof H. Sundin et al.   OPHTHALMIC GENETICS

Subfunctionalization of Duplicated Zebrafish pax6 Genes by cis-Regulatory Divergence

(2008) Dirk A. Kleinjan et al.   PLoS Genetics

Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression

(2008) H. Danno et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA