Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants
Sign Up to like & getrecommendations! Published in 2020 at "Japanese Journal of Ophthalmology"
DOI: 10.1007/s10384-020-00752-1
Abstract: To report the clinical course and high resolution images of autosomal recessive retinitis pigmentosa (RP) associated with a variant of the RP1 gene (c.4052_4053ins328/p.Tyr1352Alafs*9; m1), a high frequency founder variant in Japanese RP patients. Retrospective… read more here.
Keywords: rp1 gene; high resolution; retinitis pigmentosa;
Retinal Ciliopathy in the Patient with Transplanted Kidney: Case Report
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23147582
Abstract: A review of a rare case of a proven mutation in the RP1 gene (RP1c.2029C>T, p. (ARG677*) in a kidney transplant patient was presented herein. According to his medical history, he had tonsillectomy performed at… read more here.
Keywords: kidney; patient; case; retinal ciliopathy ... See more keywords