Genetics of Eye Development and Disease
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (15 November 2023) | Viewed by 14735
Special Issue Editors
Interests: ocular genetics; glaucoma syndromes; anterior segment dysgenesis; nanophthalmos; age-related macular degeneration
Special Issue Information
Dear Colleagues,
Nearly a third of all syndromic disorders feature ocular defects. Over the past 20 years, an explosion in genomic sequencing sparked by lower-cost high-throughput methods and the expansion of broad, clinical genetic testing have led to the discovery and definition of many new Mendelian disorders. Nowadays, genotypes frequently guide the definition of disorders, and the spectrum of features and variable expressivity within and between families continues to expand. Defining the variable genotypic and phenotypic characteristics of genetic disorders has thus become paramount for patient counselling on ocular and systemic disease risk. Functional studies and animal models of disease variants provide a framework for the validation of these disease-associated variants.
The goals of this Special Issue are to describe novel genotype–phenotype associations in syndromic disorders featuring ocular defects, highlight the variable presentations of syndromic disorders, discuss mechanisms leading to phenotypic variability, and provide functional validation of disease associated variants. In this Special Issue, we welcome original articles, family reports and case series, and reviews on the ocular features of multisystem disorders. These include, but are not limited to, studies on genotype–phenotype correlations, intrafamilial variability of disorders, genetic heterogeneity in population cohorts, novel genetic or molecular mechanisms of disease, epidemiology of genetic disorders, functional analysis and animal models of disease variants. We welcome reports on all genetic disorders with ocular and systemic features, including anterior segment dysgenesis disorders, syndromic retinal dystrophy, mitochondrial disorders, inborn errors of metabolism, congenital cataract syndromes, microphthalmia/anophthalmia/coloboma syndromes, syndromic optic neuropathies, chromosomal anomalies, imprinting disorders, and immunogenetic disorders. We look forward to your contributions.
Dr. Lev Prasov
Dr. Laryssa Huryn
Guest Editors
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Keywords
- ophthalmic genetics
- ocular syndromes
- anterior segment dysgenesis
- syndromic retinal dystrophy
- mitochondrial disorders
- inborn errors of metabolism
- congenital cataract syndromes
- syndromic microphthalmia
- optic neuropathies
- chromosomal anomalies
- immunogenetic disorders
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