Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.
Johannes BirtelMartin GliemAkio OishiPhilipp L MüllerPhilipp HerrmannFrank G HolzElisabeth MangoldMichael KnappHanno J BolzPeter Charbel IssaPublished in: Clinical & experimental ophthalmology (2019)
The medical history and retinal phenotype differ between genetically solved and a subgroup of unsolved RP-patients, which may reflect undetected genotypes or retinal conditions mimicking RP. Patient stratification may inform on the individual likelihood of identifying disease-causing mutations and may impact patient counselling.