Inherited Retinal Disease

Retinitis pigmentosa patients undergo genetic testing for a variety of reasons

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Most individuals with retinitis pigmentosa (RP) who undergo genetic testing are satisfied with their experience regardless of their motivations or expectations, according to a study.

Of the 12 patients with RP who took the survey, the following were the reported motivations for undergoing genetic testing.

-Qualification for clinical trials (58% of total)
-Determination of etiology or usal gene (50%)
-Reproductive concerns (50%)
-Prognostic outlook (50%)

Those with both positive (n = 10) and negative (n = 2) genetic testing results said they were uncertain of their potential for visual decline (50%).

Confirming the disease led to the start of vision-protecting health behaviors in 42% of participants.

Krauss E, Macher J, Capasso J, et al. Experiences of genetic testing among individuals with retinitis pigmentosa. Ophthalmic Genet. 2022;doi: 10.1080/13816810.2022.2096243. Epub ahead of print. PMID: 35796432.