In the recent past the number of mutations in genes underlying retinal disorders has increased. This page is intended to summarize these mutations. Below you will find links to subpages showing a collection of mutations sorted by proteins. The collection will be extend on demand.
The mutations will be presented according to the guidelines reported on our Mutation Nomenclature Page. We are currently in the process to adjust the mutation database to the nomenclature given by the Human Genom Variation Society (HGVS). Please, see introductory notes with each gene.
Parts of the nucleotide/codon assignment will be given as reported by the authors.
There will be an elaborated sequence available if you click on the helix
Please note, these mutation listings may be incomplete and errors may occur. The editors refuse any responsibility for harm caused to third parties. Predictions made from these mutation listing and councelling based on it are not in the editors responsibility.