Journal of Ophthalmology

Genetics in Ophthalmology


Publishing date
01 May 2018
Status
Published
Submission deadline
05 Jan 2018

Lead Editor

1University of Michigan, Ann Arbor, USA

2National Eye Institute, NIH, Bethesda, USA

3Cincinnati Children’s Hospital Medical Center, Cincinnati, USA


Genetics in Ophthalmology

Description

The sequencing of the human genome and the advent of new sequencing technologies have led to wide advances in our understanding of heritability and predisposition of common diseases. Defining the genetic basis of heritable conditions has improved our ability to counsel patients about family planning and expected disease course. However, until the last several years, few treatment options were available.

In ophthalmology, improved understanding of eye development and ocular genetics has sparked the development of novel ways to treat debilitating eye diseases. Due to its unique qualities and ease of access, the eye has led to new paradigms in gene therapy; stem cell based therapy, and targeted pharmacological therapy.

Our understanding of the genetic predisposition to complex traits, such as glaucoma and macular degeneration, is helping to uncover the pathogenesis of these common disorders and develop novel therapeutic strategies. An understanding of disease heritability has become essential to routine ophthalmic practice, as basic practice components from refractive error to intraocular pressure have a clear hereditary basis. Despite these advances, much remains to be determined about the genes and pathways involved in the development and function of the eye.

Here, we propose a special issue focusing on high quality original, review articles, and clinical studies that address the recent advances in the genetics of Mendelian and complex eye disorders and the heritability of ocular traits. We will solicit manuscripts in all areas of inherited eye conditions, including corneal and anterior segment diseases, glaucoma, retinal disorders, and eyelid and orbital conditions.

Potential topics include but are not limited to the following:

  • Association studies and genetic susceptibility of complex ocular traits
  • Case series or familial reports of syndromic and isolated ocular conditions
  • Genetic basis of ocular conditions
  • Genotype-phenotype correlation studies
  • In vitro and animal models of inherited ocular disease
  • Therapeutic trials or series for gene therapy, stem cell based therapy, or targeted pharmacological therapy
  • Mechanistic basis of inherited disorders
  • Legal and ethical issues surrounding genetic testing and genetic diagnosis

Articles

  • Special Issue
  • - Volume 2018
  • - Article ID 4608946
  • - Editorial

Genetics in Ophthalmology

Lev Prasov | Stephen T. Armenti | ... | Robert B. Hufnagel
  • Special Issue
  • - Volume 2018
  • - Article ID 2984934
  • - Research Article

Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis

Robert A. Sisk | Robert B. Hufnagel | ... | Zubair M. Ahmed
  • Special Issue
  • - Volume 2018
  • - Article ID 9538671
  • - Review Article

Association of Genes in the High-Density Lipoprotein Metabolic Pathway with Polypoidal Choroidal Vasculopathy in Asian Population: A Systematic Review and Meta-Analysis

Ming-zhen Yuan | Ruo-an Han | ... | You-xin Chen
  • Special Issue
  • - Volume 2018
  • - Article ID 8761625
  • - Research Article

Comparison of SNP Genotypes Related to Proliferative Vitreoretinopathy (PVR) across Slovenian and European Subpopulations

Xhevat Lumi | Mateja M. Jelen | ... | Damjan Glavač
  • Special Issue
  • - Volume 2018
  • - Article ID 2735465
  • - Review Article

Nanophthalmos: A Review of the Clinical Spectrum and Genetics

Pedro C. Carricondo | Thais Andrade | ... | Sayoko E. Moroi
  • Special Issue
  • - Volume 2018
  • - Article ID 5706142
  • - Research Article

Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles

Kamakari Smaragda | Kokkinou Vassiliki | ... | Tsilimbaris K. Miltiadis
  • Special Issue
  • - Volume 2018
  • - Article ID 8293452
  • - Research Article

Evaluation of TGF-Beta 2 and VEGFα Gene Expression Levels in Epiretinal Membranes and Internal Limiting Membranes in the Course of Retinal Detachments, Proliferative Diabetic Retinopathy, Macular Holes, and Idiopathic Epiretinal Membranes

Joanna Stafiej | Karolina Kaźmierczak | ... | Grażyna Malukiewicz
  • Special Issue
  • - Volume 2018
  • - Article ID 5978293
  • - Research Article

Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation

Grace M. Wang | Lev Prasov | ... | Brenda L. Bohnsack
  • Special Issue
  • - Volume 2018
  • - Article ID 5926906
  • - Review Article

Molecular Genetics of Pigment Dispersion Syndrome and Pigmentary Glaucoma: New Insights into Mechanisms

Adrian A. Lahola-Chomiak | Michael A. Walter
  • Special Issue
  • - Volume 2018
  • - Article ID 1030184
  • - Research Article

Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations

Yousra Falfoul | Imen Habibi | ... | Leila El Matri
Journal of Ophthalmology
 Journal metrics
See full report
Acceptance rate10%
Submission to final decision129 days
Acceptance to publication18 days
CiteScore3.400
Journal Citation Indicator0.630
Impact Factor1.9
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