Retinitis pigmentosa [107 genes]

Retinitis pigmentosa (RP) is a heterogeneous group of inherited eye diseases that result in progressive degeneration of the retina. It affects 1 in every 3,000 – 5,000 people and there are dozens of genes currently related to the disease. The most recurrent symptoms are night blindness, tunnel vision, and a slowly progressive decrease in central vision, generally starting in adolescence. During fundus examination, the classic manifestation consists of the presence of dark pigment accumulations in the mid-periphery and perivenous areas, attenuated retinal vessels, cystoid macular edema, and waxy pallor of the optic disc. RP is relatively frequently associated with posterior subcapsular cataracts, high myopia, astigmatism, keratoconus, and hearing loss, usually mild.

Incidence: 1 in every 3,000 – 5,000 people

It is recommended to request the Retinitis pigmentosa service if there is clinical suspicion of this disease after an adequate ophthalmological evaluation. Due to the high number of genes associated with this disease, an approach based on NGS (Next Generation Sequencing) has an indisputable advantage over conventional techniques. At Health in Code, we defend the exome approach as the most efficient solution from a global perspective, as it will allow the study to be expanded to new genes that may be associated with the disease over the years in the event of an inconclusive initial result. Likewise, despite the high number of intronic variants described in certain genes, an approach of this type with subsequent genome expansion or other specific techniques in specific patients should be considered more cost-efficient than an approach based on input genome for all patients.

Genetic diagnosis is of importance in this disease because, together with the importance of establishing the diagnosis and transferring prognostic information, it allows the selection of specific patients for clinical trials with new therapies.

Useful service to reach an accurate diagnosis, transfer prognostic information, and identify candidate patients to enter clinical trials with new gene therapies.

Service indicated when there is clinical suspicion of retinitis pigmentosa after an adequate ophthalmological evaluation.