OBJECTIVE: To elucidate the underlying disease causing mutations in patients from a consanguineous family with retinitis pigmentosa (RP), as well as to characterize the clinical phenotypes. STUDY DESIGN: Nine family members of 1 patient and 8 normal relatives from a sporadic RP family were collected in September 2014 in our hospital to participate in this research. All individuals underwent ophthalmologic evaluations and peripheral blood collection. The DNA was extracted, and the candidate variants were sequenced and subsequently aligned with PROM1 reference sequence. RESULTS: A 34-year-old female proband had been determined to have isolated RP at the age of 21. The intraocular pressure was 18 mmHg in her right eye and 20 mmHg in her left eye. Fundus examination demonstrated that typical changes of RP were in both eyes. Optic coherence tomography showed decreased thickness of the retinal layers in both eyes. Fundus oculi examination indicated focal pathology in the macular region and "bone corpuscle"-like pigment lumps in the periphery. Ophthalmic examination of the proband showed a typical RP phenotype. After targeted exome sequencing and comprehensive genetic analyses we identified 2 novel compound heterozygous mutations (missense mutation: c.569G > A; p.S190N; nonsense mutation: c.2518G > T, p.E840X) in PROM1 gene, which was responsible for causing RP. CONCLUSION: The results of the current study suggest that pathogenic mutations in PROM1 revealed by targeted exome sequencing expand the spectrum of mutations in RP. © Science Printers and Publishers, Inc.