Inherited eye disease: cause and late effect.
Molecular genetics has provided relatively few insights into late-onset eye disorders, but epidemiological data indicate that genetic factors are important in some late-onset eye disorders that cause major health burdens. Much clinical genetic research is based on the belief that developmental and late-onset disorders are not necessarily the result of defects in different genes, but are often caused by different mutations in the same collection of genes. Thus, mutations that either abolish or radically change gene function might cause early-onset disorders, whereas more-subtle changes in gene expression might underlie late-onset diseases. We present arguments and examples that indicate that this principle might be a fruitful guide to investigating the causes of late-onset eye disorders.
Manson
Forbes D C
FD
Academic Unit of Eye and Vision Science, Manchester Royal Eye Hospital, School of Medicine, University of Manchester, Oxford Road, Manchester M13 9WH, UK.
Trump
Dorothy
D
Read
Andrew P
AP
Black
Graeme C M
GC
D017668:Age of Onset; D015785:Eye Diseases, Hereditary / Q000209:etiology*; D018507:Gene Expression Regulation, Developmental; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D014157:Transcription Factors / Q000235:genetics
D014157:Transcription Factors