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