April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Characterization of Phenotype and Genotype in Israeli Patients with Hereditary Retinal Disease
Author Affiliations & Notes
  • Eyal Banin
    Ophthalmology, Hadassah-Hebrew Univ Med Ctr, Jerusalem, Israel
  • Dikla Bandah-Rozenfeld
    Ophthalmology, Hadassah-Hebrew Univ Med Ctr, Jerusalem, Israel
  • Lina Zelinger
    Ophthalmology, Hadassah-Hebrew Univ Med Ctr, Jerusalem, Israel
  • Liliana Mizrahi-Meissonnier
    Ophthalmology, Hadassah-Hebrew Univ Med Ctr, Jerusalem, Israel
  • Alexey Obolensky
    Ophthalmology, Hadassah-Hebrew Univ Med Ctr, Jerusalem, Israel
  • Dalia Eli
    Ophthalmology, Hadassah-Hebrew Univ Med Ctr, Jerusalem, Israel
  • Anat Blumenfeld
    Ophthalmology, Hadassah-Hebrew Univ Med Ctr, Jerusalem, Israel
  • Itay Chowers
    Ophthalmology, Hadassah-Hebrew Univ Med Ctr, Jerusalem, Israel
  • Saul Merin
    Ophthalmology, Hadassah-Hebrew Univ Med Ctr, Jerusalem, Israel
  • Dror Sharon
    Ophthalmology, Hadassah-Hebrew Univ Med Ctr, Jerusalem, Israel
  • Footnotes
    Commercial Relationships  Eyal Banin, None; Dikla Bandah-Rozenfeld, None; Lina Zelinger, None; Liliana Mizrahi-Meissonnier, None; Alexey Obolensky, None; Dalia Eli, None; Anat Blumenfeld, None; Itay Chowers, None; Saul Merin, None; Dror Sharon, None
  • Footnotes
    Support  Foundation Fighting Blindness (FFB- grant number BR-GE-0607-0395-HUJ), The Israeli Ministry of Health and the Yedidut 1 Research Grant.
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 6607. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Eyal Banin, Dikla Bandah-Rozenfeld, Lina Zelinger, Liliana Mizrahi-Meissonnier, Alexey Obolensky, Dalia Eli, Anat Blumenfeld, Itay Chowers, Saul Merin, Dror Sharon; Characterization of Phenotype and Genotype in Israeli Patients with Hereditary Retinal Disease. Invest. Ophthalmol. Vis. Sci. 2011;52(14):6607.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose: : The Israeli population includes sub-populations of different ethnic backgrounds in which founder mutations and autosomal recessive disease become highly prevalent because of a high rate of consanguineous marriages. The purpose of this long-term, on-going study is to characterize the clinical features and identify the genetic cause of disease in Israeli patients with hereditary retinal degenerations.

Methods: : Clinical analyses included family history, ocular examination, full-field electroretinography, electro-oculography, color vision testing, perimetry, and retinal imaging. Molecular genetic techniques included linkage analysis, homozygosity mapping, candidate gene screening, and mutation analysis.

Results: : Over the last 8 years, 913 families that include over 1800 patients with hereditary retinal and macular diseases were recruited. In 60% of families the pattern of inheritance was autosomal recessive, in 8% autosomal dominant, in 8% X-linked and the remainder were isolate cases in which the mode of transmission could not be determined. The most common phenotype is retinitis pigmentosa (39% of families), followed by Leber congenital amaurosis (9%), cone-rod dystrophy (9%), Stargardt disease (6%), Usher syndrome (7%), CSNB (5%), maculopathy (4%), and achromatopsia (4%). Rarer disease phenotypes include Bardet-Bidell syndrome, enhanced S-cone syndrome, Best disease, choroideremia, and others. The genetic cause of disease was identified in 259 (28%) of families up to now. In many cases, the mutations were novel ones in known genes, and were prevalent in specific sub-populations sharing the same ethnic background. The homozygosity mapping technique has allowed the recent identification of three novel RP-causing genes, FAM161A, IMPG2, and DHDDS.

Conclusions: : A decade ago, only a small fraction of Israeli patients with hereditary retinal degenerations carried a genetic diagnosis. The establishment of a number of molecular genetic laboratories focusing on these diseases has significantly improved this situation. As the number of recruited patients is growing, the rate of molecular genetic diagnosis is increasing, and the high prevalence of specific mutations in sub-populations of defined ethnic backgrounds greatly improves efficacy of diagnosis. The high rate of consanguineous marriages in the population we serve allows effective use of the homozygosity mapping technique, facilitating the identification of novel disease-causing genes.

Keywords: retinal degenerations: hereditary • genetics • electrophysiology: clinical 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×