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
Journal of Ophthalmology
 Journal metrics
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Acceptance rate10%
Submission to final decision129 days
Acceptance to publication18 days
CiteScore3.400
Journal Citation Indicator0.630
Impact Factor1.9
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