Purchase this article with an account.
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.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
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.
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.
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 %).
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.
This PDF is available to Subscribers Only