title: [Genetics of retinal dystrophies--an overview].
abstract: Vision requires complex retinal functions, involving multiple genes with different functions. Retinal degeneration results from disturbance of retina-specific processes such as the visual transduction cascade, but also from defects in basic functions such as pre-mRNA splicing and nucleotide synthesis. As a consequence, the retinal dystrophies are genetically extremely heterogeneous (as shown in the table). Thanks to the Human Genome Project, the identification of retinal disease genes and additional loci has skyrocketed. Today, a typical search for the causative gene in a disease-linked genomic interval starts at the computer. Genes from a particular region can be displayed, and multiple gene-specific data such as expression patterns are immediately accessible. Candidate genes can then be investigated in DNA from affected individuals.
authors.affiliation: Institut für Humangenetik, Universitätsklinikum zu Köln. hanno.bolz@uk-koeln.de
authors.forename: H
authors.initials: H
authors.lastname: Bolz
mesh_terms: D015415:Biomarkers / Q000378:metabolism; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism*; D020869:Gene Expression Profiling / Q000379:methods*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D012162:Retinal Degeneration / Q000235:genetics* / Q000378:metabolism*; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism*
chemical_list: D015415:Biomarkers; D005136:Eye Proteins; D014157:Transcription Factors