Your browser doesn't support javascript.
loading
[THE ISRAELI INHERITED RETINAL DISEASES CONSORTIUM (IIRDC)- CLINICAL-GENETIC MAPPING AND FUTURE PERSPECTIVES].
Sharon, Dror; Ben-Yosef, Tamar; Pras, Eran; Goldenberg-Cohen, Nitza; Gradstein, Libe; Shomron, Noam; Birk, Ohad; Ehrenberg, Miriam; Levy, Jaime; Mezer, Eedy; Soudry, Shiri; Rotenstreich, Ygal; Newman, Hadas; Leibu, Rina; Banin, Eyal; Perlman, Ido.
Afiliación
  • Sharon D; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem.
  • Ben-Yosef T; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa.
  • Pras E; Department of Ophthalmology, Assaf-Harofeh Medical Center, Zerifin.
  • Goldenberg-Cohen N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv.
  • Gradstein L; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa.
  • Shomron N; Department of Ophthalmology, Bnai Zion Medical Center, Haifa.
  • Birk O; The Krieger Eye Research Laboratory, Petah Tikva.
  • Ehrenberg M; Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben-Gurion University, Beer Sheva.
  • Levy J; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv.
  • Mezer E; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev, Ben-Gurion University, Beer Sheva.
  • Soudry S; Genetics Institute, Soroka Medical Center, Faculty of Health Sciences, Ben-Gurion University, Beer Sheva.
  • Rotenstreich Y; Ophthalmology Unit, Schneider Children's Medical Center in Israel, Petah Tikva.
  • Newman H; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem.
  • Leibu R; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa.
  • Banin E; Department of Ophthalmology, Rambam Healthcare Campus, Haifa.
  • Perlman I; Department of Ophthalmology, Rambam Healthcare Campus, Haifa.
Harefuah ; 158(2): 91-95, 2019 Feb.
Article en He | MEDLINE | ID: mdl-30779484
INTRODUCTION: The sense of vision is highly important for humans and its loss markedly affects function and quality of life. Many inherited retinal diseases (IRDs) cause visual loss due to dysfunction or progressive degeneration of photoreceptor cells. These diseases show clinical and genetic heterogeneity. AIMS: The Israeli IRD consortium (IIRDC) was established with the goal of performing clinical and genetic mapping of IRDs in the Israeli population. METHODS: Clinical evaluation is carried out at electroretinography (ERG) centers and ophthalmology departments, where the patients undergo a comprehensive eye exam, including testing of visual acuity, refractive error, imaging techniques and ERG tests. Genetic analysis is performed using Sanger sequencing, analysis of founder mutations, and whole exome sequencing. RESULTS: We recruited over 2,000 families including more than 3,000 individuals with IRDs. The most common inheritance pattern is autosomal recessive (65% of families). The most common retinal phenotype is retinitis pigmentosa (RP- 45% of families), followed by cone/cone-rod dystrophy, Stargardt Disease and Usher syndrome. We identified the cause of disease in 51% of families, mainly due to mutations in ABCA4, USH2A, FAM161A, CNGA3, and EYS. IIRDC researchers were involved in the identification of 16 novel IRD genes. In parallel, IIRDC members are involved in the development of therapeutic modalities for these currently incurable diseases. CONCLUSIONS: IIRDC works in close collaborative efforts aiming to continue and recruit for the genotype - phenotype study from the vast majority of Israeli IRD families, to identify all disease-causing mutations, and to tailor therapeutic interventions to each IRD patient.
Asunto(s)
Buscar en Google
Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Calidad de Vida / Retinitis Pigmentosa Aspecto: Patient_preference Límite: Humans Idioma: He Revista: Harefuah Año: 2019 Tipo del documento: Article Pais de publicación: Israel
Buscar en Google
Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Calidad de Vida / Retinitis Pigmentosa Aspecto: Patient_preference Límite: Humans Idioma: He Revista: Harefuah Año: 2019 Tipo del documento: Article Pais de publicación: Israel