Yasunori Nagase1, Kentaro Kurata1, Katsuhiro Hosono1, Kimiko Suto1, Akiko Hikoya1, Hiroshi Nakanishi2, Kunihiro Mizuta2, Hiroyuki Mineta2, Shinsei Minoshima3, Yoshihiro Hotta1. 1. a Department of Ophthalmology , Hamamatsu University School of Medicine , Hamamatsu-shi , Shizuoka , Japan. 2. b Department of Otorhinolaryngology/Head & Neck Surgery , Hamamatsu University School of Medicine , Hamamatsu-shi , Shizuoka , Japan. 3. c Department of Photomedical Genomics, Institute for Medical Photonics Research, Preeminent Medical Photonics Education & Research Center , Hamamatsu University School of Medicine , Hamamatsu-shi , Shizuoka , Japan.
Abstract
PURPOSE: EYS and USH2A are the most common causative genes for retinitis pigmentosa (RP) in Japan. We determined the clinical outcomes for USH2A-related non-syndromic RP or Usher syndrome type II (USH2). METHODS: Two non-syndromic RP and 11 USH2 patients with previously identified USH2A mutations were included. Their complete history and medical records were collected using standard procedures. Visual fields and acuity were compared with those of patients with EYS mutations. Clinical analyses were based on ophthalmic and otolaryngologic examinations. RESULTS: In all patients, the fundus displayed changes typical of RP. Most patients showed relatively well-preserved visual acuity in their thirties or forties, with rapid deterioration in their fifties. Concentric constriction started in the twenties or thirties, and no effective residual visual field was observed after the fifties. CONCLUSIONS: The visual outcome for non-syndromic RP or USH2 patients with USH2A mutations is consistent with that for RP patients with EYS mutations.
PURPOSE:EYS and USH2A are the most common causative genes for retinitis pigmentosa (RP) in Japan. We determined the clinical outcomes for USH2A-related non-syndromic RP or Usher syndrome type II (USH2). METHODS: Two non-syndromic RP and 11 USH2patients with previously identified USH2A mutations were included. Their complete history and medical records were collected using standard procedures. Visual fields and acuity were compared with those of patients with EYS mutations. Clinical analyses were based on ophthalmic and otolaryngologic examinations. RESULTS: In all patients, the fundus displayed changes typical of RP. Most patients showed relatively well-preserved visual acuity in their thirties or forties, with rapid deterioration in their fifties. Concentric constriction started in the twenties or thirties, and no effective residual visual field was observed after the fifties. CONCLUSIONS: The visual outcome for non-syndromic RP or USH2patients with USH2A mutations is consistent with that for RP patients with EYS mutations.
Authors: Andrej Zupan; Ana Fakin; Saba Battelino; Martina Jarc-Vidmar; Marko Hawlina; Crystel Bonnet; Christine Petit; Damjan Glavač Journal: Genes (Basel) Date: 2019-12-05 Impact factor: 4.096
Authors: M Stemerdink; B García-Bohórquez; R Schellens; G Garcia-Garcia; E Van Wijk; J M Millan Journal: Hum Genet Date: 2021-07-30 Impact factor: 4.132