Mutational spectrum in RP and LCA patients.

<p>Percentages refer to patients with mutations in the respective gene that are considered causative. The distribution of causative mutations across many genes, each contributing a relatively small fraction to the mutational spectrum, confirms the extensive genetic heterogeneity of retinal dystrophies. Note that the three patients that were found to carry X-linked mutations are not contained in the schemes A – B. <b>A.</b> arRP. <b>B.</b> adRP. Note that the percentages refer to a relatively small adRP cohort in this study. <b>C.</b> LCA. <b>D.</b> Functional categorization of genes that were found to carry causative mutations in our study. Mutations in genes encoding components of the photoreceptor’s connecting cilium and associated structures were predominant.