Expanding the clinical and molecular heterogeneity of nonsyndromic inherited retinal dystrophies

This study highlights the clinical utility of targeted NGS for NS-IRD cases and the importance of full ophthalmologic examination, which allow us to set up new genotype-phenotype associations and expands the knowledge of this group of disorders. To identify the cause of disease is essential for improving the patient management, the accurate genetic counseling and to take advantage of gene therapy-based treatments.
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research