April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland
Author Affiliations & Notes
  • Viet Hoai Tran
    Oculogenetics, Jules Gonin, Lausanne, Switzerland
  • Veronika Vaclavik
    Oculogenetics, Jules Gonin, Lausanne, Switzerland
  • Susan Houghton
    Oculogenetics, Jules Gonin, Lausanne, Switzerland
    IRO, Sion, Switzerland
  • Leila Tiab
    IRO, Sion, Switzerland
  • Daniel F Schorderet
    IRO, Sion, Switzerland
  • Francis L Munier
    Oculogenetics, Jules Gonin, Lausanne, Switzerland
  • Footnotes
    Commercial Relationships Viet Tran, None; Veronika Vaclavik, None; Susan Houghton, Retina Suisse (F); Leila Tiab, None; Daniel Schorderet, None; Francis Munier, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 4514. doi:
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      Viet Hoai Tran, Veronika Vaclavik, Susan Houghton, Leila Tiab, Daniel F Schorderet, Francis L Munier; Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland. Invest. Ophthalmol. Vis. Sci. 2014;55(13):4514.

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

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Abstract

Purpose: Mutational screening of inherited retinal disorders is prerequisite for gene therapy. We report the genetic and clinical features of retinitis pigmentosa (RP) and other inherited retinal disorders from a single center in Switzerland.

Methods: Patients diagnosed and referred with an inherited retinal disorder, together with available family members, were enrolled between January 2003 and December 2013 in Lausanne, Switzerland, and underwent complete eye examination. Comprehensive gene screening was performed using a combined approach of different generation of DNA microarray analysis and direct sequencing.

Results: 952 index individuals were enrolled. The studied population was divided into 6 groups. Group 1a patients had non syndromic RP (288 families, 30%) in which autosomal recessive (AR) RP (42%) was the most frequent form, followed by simplex RP (29%), autosomal dominant (AD) RP (22%) and X-linked RP (6%). In group 1b, patients had syndromic RP (41 families, 4%). Group 2 comprised patients with macular dystrophies (group 2a) (231 families, 24%), or cone and cone/rod dystrophy (group 2b) (64 families, 7%). Group 3 included Leber congenital amaurosis (56 families, 6%). 46 families (5%) (group 4) had optic nerve hereditary disorders and 8 families (< 1%) (group 5) presented with vitreous hereditary disorders. Finally, group 6 (218 families, 23% of the cohort) included all other types of hereditary retinal diseases. 44% of the cohort (423 patients) had molecular testing and mutation was found in 30% of them (125 patients). The top-ten of genes mutated were found in ABCA4 (18.9 %), BEST1 (12.2 %), PRPH2 (12.2 %), RS1 (6.8 %), RPE65 (6.8 %), BBS1 (5.4 %), EFMP1 (5.4 %), NR2E3 (4.1 %), CNNM4 (4.1 %) and RHO (4.1 %).

Conclusions: RP is the most frequent of the inherited retinal disorders diagnosed in Lausanne, Switzerland. As described in a previous Swiss study, and most series from others part of the world, AR RP and simplex RP are the most frequent forms of RP in the population studied.

Keywords: 537 gene screening • 696 retinal degenerations: hereditary • 538 gene transfer/gene therapy  
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