title: [Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes].
abstract: OBJECTIVE
  To evaluate the occurrence and inheritance of various types of pigmentary retinopathy in patients followed at the outpatient clinic in the university hospital, Montpellier, France. To characterize genes and mutations causing these conditions.
  
  
  METHODS
  Ophthalmic examination and various visual tests were performed. Mutations were sought from genomic DNA by PCR amplification of exons associated with single-strand conformation analysis and/or direct sequencing.
  
  
  RESULTS
  Among 315 patients over an 8-year period, cases of retinitis pigmentosa (63.2%), Usher's syndrome (10.2%), Stargardt's disease (5.4%), choroideremia (3.2%), Leber's congenital amaurosis (3.2%), congenital stationary night blindness (2.9%), cone dystrophy (2.5%), dominant optic atrophy (1.9%), X-linked juvenile retinoschisis (1.6%), Best's disease (1.6%), and others (4.3%) were diagnosed. In retinitis pigmentosa, inheritance could be determined in 54.2% of the cases including dominant autosomic (26.6%), recessive autosomic (22.6%), and X-linked cases (5%) while it could not be confirmed in 45.7% of the cases (simplex cases in the majority). For the 6 examined genes, mutations were found in 22 out of 182 propositus (12.1%). Analysis of phenotype-genotype correlations indicates that in retinitis pigmentosa, RDS is more frequently associated with macular involvement and retinal flecks, RHO with regional disease, and RPE65 with the great severity of the disease with some cases of Leber's congenital amaurosis.
  
  
  CONCLUSIONS
  Identification of genes may help in diagnosis and in genetic counseling, especially in simplex cases with retinitis pigmentosa. In this latter condition, molecular diagnosis will be necessary to rationalize future treatments.
authors.affiliation: Laboratoire de Neurobiologie, Inserm U. 254, 71, rue de Navacelles, 34090 Montpellier. hamel@montp.inserm.fr
authors.forename: C P
authors.initials: CP
authors.lastname: Hamel
authors.forename: J M
authors.initials: JM
authors.lastname: Griffoin
authors.forename: C
authors.initials: C
authors.lastname: Bazalgette
authors.forename: L
authors.initials: L
authors.lastname: Lasquellec
authors.forename: P A
authors.initials: PA
authors.lastname: Duval
authors.forename: C
authors.initials: C
authors.lastname: Bareil
authors.forename: L
authors.initials: L
authors.lastname: Beaufrère
authors.forename: S
authors.initials: S
authors.lastname: Bonnet
authors.forename: C
authors.initials: C
authors.lastname: Eliaou
authors.forename: F
authors.initials: F
authors.lastname: Marlhens
authors.forename: C F
authors.initials: CF
authors.lastname: Schmitt-Bernard
authors.forename: S
authors.initials: S
authors.lastname: Tuffery
authors.forename: M
authors.initials: M
authors.lastname: Claustres
authors.forename: B
authors.initials: B
authors.lastname: Arnaud
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000293:Adolescent; D000328:Adult; D019883:Alkyl and Aryl Transferases; D002352:Carrier Proteins; D002648:Child; D002874:Chromosome Mapping; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005602:France; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008562:Membrane Glycoproteins; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D064531:Peripherins; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D019745:cis-trans-Isomerases; D020691:rab GTP-Binding Proteins / Q000235:genetics*; D000099178:Retinoid Isomerohydrolase
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D019883:Alkyl and Aryl Transferases; D002352:Carrier Proteins; D016326:Extracellular Matrix Proteins; D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D064531:Peripherins; D011506:Proteins; D019745:cis-trans-Isomerases; D020691:rab GTP-Binding Proteins; D000099178:Retinoid Isomerohydrolase; C081787:CHM protein, human; C578997:PRPH2 protein, human; C108726:RS1 protein, human; C112735:USH2A protein, human