Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

Abstract excerpt

BACKGROUND: Retinal dystrophies (RD) are a group of hereditary diseases that lead to debilitating visual impairment and are usually transmitted as a Mendelian trait. Pathogenic mutations can occur in any of the 100 or more disease genes identified so far, making molecular diagnosis a rather laborious process. In this work we explored the use of whole exome sequencing (WES) as a tool for identification of RD...

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• Cyclic Nucleotide-Gated Cation Channels
• Extracellular Matrix Proteins
• Eye Proteins
• Leber Congenital Amaurosis
• Microtubule-Associated Proteins