Some patients show complex blended phenotypes that combine retinal dystrophy with other ocular disorders. In these cases, the genetic diagnosis via massive sequencing performed by our team in collaboration with clinicians was instrumental to identify the causative retinal dystrophy mutations plus additional genetic variants that also impacted on the phenotype. Thus, multi-Mendelian phenotypes previously ascribed to rare syndromes can be precisely diagnosed and clinically reavaluated. In this work, massive sequencing also allowed reassignment of patients as being affected by choroideremia instead of retinitis pigmentosa. Overall, the combination of powerful genetic diagnosis and clinical non-invasive imaging techniques secures clinical diagnosis, enables efficient management of patients and allows their prioritisation for gene-specific therapies.
This work has been selected as “Article of the Month” by the Institute of Biomedicine at the Universitat de Barcelona (IBUB).