Genetics and Pathogenesis of Inherited Eye Diseases

Dear Colleagues,

Background: The field of genetic eye diseases is advancing, with numerous clinical trials underway and the first retinal gene therapy available for patients as an approved treatment, made possible due to an improved molecular diagnosis and greater understanding in disease mechanisms. A plethora of genes and variants have been discovered to cause inherited eye diseases. Whole-genome sequencing has advanced our ability to solve genetic cases, diagnose the yield for patients and broaden our understanding of these conditions, having helped to identify new variants, including deep intronic and noncoding regulatory changes. With the expansion of these genotypes, we can now begin to establish clearer genotype–phenotype correlations to guide the prognosis and accurate management of patients through a multidisciplinary team approach. Disease models are used to validate novel variants and dissect disease mechanisms, going on to reveal therapeutic targets for pre-clinical testing.

Aim and scope: In this Special Issue, we plan to highlight the genetics of inherited eye diseases to build on our knowledge of genotype–phenotype correlations and establish the optimal management pathways for patients. We also plan to showcase the pathogenesis of these conditions that could lead to therapeutic targets and the development of new treatment strategies. 

Cutting-edge research: Multiomics approaches in patients and disease models (animals and cellular) are helping to identify new variants, including deep intronic and noncoding regulatory changes, epigenetic and transcriptomic changes that lead to genetic eye diseases, with ophthalmology at the vanguard of this field. 

What kind of papers we are soliciting: Original research articles, reviews and cohort studies 

Prof. Dr. Mariya Moosajee
Dr. Robert B Hufnagel
Guest Editors

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