Journal of Ophthalmology

Inherited Retinal Degeneration: Genetics, Disease Characterization, and Outcome Measures


Status
Published

Lead Editor

1University of the Michigan Kellogg Eye Center, Ann Arbor, USA

2Catholic University of the Sacred Heart, Milan, Italy

3Mie University, Tsu, Japan

4UCL Institute of Ophthalmology, London, UK


Inherited Retinal Degeneration: Genetics, Disease Characterization, and Outcome Measures

Description

Inherited retinal degeneration is blinding disorder that has been a major focus of recent advances in genetic research and in the development of treatment modalities. With the advent of novel therapeutic interventions such as gene therapy, strategies are being developed to treat these disorders, to restore function, or to delay progression. Essential considerations include determining the molecular characteristics of the disease for designing the treatment strategy, having a robust clinical characterization to establish genotype-phenotype correlations, determination of the age or disease stage optimal for intervention, and methods to monitor treatment safety and efficacy.

Development of effective treatment strategies requires a comprehensive understanding of the disease natural history and prediction of visual prognosis in the face of variability in phenotype. Another major consideration is the development of tests to best measure outcomes and to evaluate therapeutic efficacy in human clinical trials. Functional and structural assessments may be challenging in patients with severe disease or with small areas of viable retinal tissue, requiring improved methods of assessment and monitoring.

The purpose of this special issue is to solicit original research articles addressing disease characterization, methods for assessing natural history of disease, and new methodologies and technologies for developing outcome measures in human disease, including retinal and fundus imaging methods, psychophysical tests, and objective methods of assessing function such as pupillography and visual electrophysiology.

Potential topics include but are not limited to the following:

  • Genotype-phenotype correlations
  • Natural history studies
  • Adaptive optics
  • Microstructural findings using OCT
  • Electrophysiology
  • Visual fields
  • New imaging techniques and image analysis
  • Validation of correlations between morphological and functional measures
  • Intervisit variability in measures of structure and function

Articles

  • Special Issue
  • - Volume 2017
  • - Article ID 2109014
  • - Editorial

Inherited Retinal Degeneration: Genetics, Disease Characterization, and Outcome Measures

Naheed W. Khan | Benedetto Falsini | ... | Anthony G. Robson
  • Special Issue
  • - Volume 2017
  • - Article ID 1079687
  • - Research Article

ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance

Satoshi Katagiri | Yuya Negishi | ... | Takaaki Hayashi
  • Special Issue
  • - Volume 2017
  • - Article ID 3643495
  • - Research Article

Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease

Edoardo Abed | Giorgio Placidi | ... | Benedetto Falsini
  • Special Issue
  • - Volume 2017
  • - Article ID 4156386
  • - Research Article

PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti’s Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family

Xiaohong Meng | Qiyou Li | ... | Zhengqin Yin
  • Special Issue
  • - Volume 2017
  • - Article ID 3080245
  • - Research Article

Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy

Giancarlo Iarossi | Matteo Bertelli | ... | Lucia Ziccardi
  • Special Issue
  • - Volume 2017
  • - Article ID 6950642
  • - Research Article

Physical Activity and Quality of Life in Retinitis Pigmentosa

Joshua D. Levinson | Ethan Joseph | ... | Jiong Yan
Journal of Ophthalmology
 Journal metrics
Acceptance rate36%
Submission to final decision74 days
Acceptance to publication31 days
CiteScore2.800
Impact Factor1.447
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