Current Understanding of the Genetic Architecture of Rhegmatogenous Retinal Detachment

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

Recessive Mutations inLEPREL1Underlie a Recognizable Lens Subluxation Phenotype

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

Prevalence of ectopia lentis and retinal detachment in Marfan syndrome

(2013) Aman Chandra et al.   ACTA OPHTHALMOLOGICA

Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

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

Autosomal recessive stickler syndrome due to a loss of function mutation in theCOL9A3gene

(2013) Flavio Faletra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment

(2013) Mirna Kirin et al.   HUMAN MOLECULAR GENETICS

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

Bringing genome-wide association findings into clinical use

(2013) Teri A. Manolio   NATURE REVIEWS GENETICS

Snowflake Vitreoretinal Degeneration (SVD) Mutation R162W Provides New Insights into Kir7.1 Ion Channel Structure and Function

(2013) Bikash R. Pattnaik et al.   PLoS One

X-linked Juvenile Retinoschisis (XLRS): A Review of Genotype-Phenotype Relationships

(2013) David Y. Kim et al.   Seminars in Ophthalmology

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

The distinct ophthalmic phenotype of Knobloch syndrome in children

(2012) Arif O Khan et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

The Association between Time Spent Outdoors and Myopia in Children and Adolescents

(2012) Justin C. Sherwin et al.   OPHTHALMOLOGY

Common Variants in the COL4A4 Gene Confer Susceptibility to Lattice Degeneration of the Retina

(2012) Akira Meguro et al.   PLoS One

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

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

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome

(2011) Stuart Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

(2011) M P Snead et al.   EYE

PATHOGENESIS OF RHEGMATOGENOUS RETINAL DETACHMENT

(2010) Danny Mitry et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Retinal detachment

(2009) Ragnar Törnquist et al.   ACTA OPHTHALMOLOGICA

The epidemiology of rhegmatogenous retinal detachment: geographical variation and clinical associations

(2009) D. Mitry et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration

(2008) J. Fielding Hejtmancik et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical features of the congenital vitreoretinopathies

(2008) A O Edwards   EYE

Adult vitreous structure and postnatal changes

(2008) M M Le Goff et al.   EYE

Molecular Genetics of Human Myopia: An Update

(2008) Terri L. Young   OPTOMETRY AND VISION SCIENCE