Archivos de la Sociedad Espanola de Oftalmologia · 2002
[Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)].
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Millá E, Maseras M, Martínez-Gimeno M, Gamundi M J, Assaf H, Esmerado C, Carballo M, Grupo Multicéntrico Español de Retinosis Pigmentaria
Аннотация
OBJECTIVE: Genetic characterization of a series of patients with autosomal dominant retinitis pigmentosa (ADRP).
METHODS: All patients underwent complete ophthalmological examination including computerized perimetry, electroretinography and occasionally fluorescein angiography. Blood samples were drawn for genetic analysis of candidate genes namely rhodopsin (RHO), peripherin-RDS, ROM-1, CRX, RP1 and NRL.
RESULTS: 148 ADRP index cases were examined at our hospital from June 1991 to September 2001. Genetic analysis detected the following mutations: 29 different families (19.5%) carried a RHO mutation among which the Pro-347-Leu was the most frequent one, five different RP-1 mutations (3.3%), 2 RDS mutations and one NRL mutation, which is the second reported in the world literature.
CONCLUSIONS: RHO followed by RP1 are the most frequent ADRP-causing genes in our series as in other published ones, and RDS causes mainly macular dystrophies. Molecular characterization was possible in 37 families (25%) which is of great interest for visual prognosis and genetic counselling.
METHODS: All patients underwent complete ophthalmological examination including computerized perimetry, electroretinography and occasionally fluorescein angiography. Blood samples were drawn for genetic analysis of candidate genes namely rhodopsin (RHO), peripherin-RDS, ROM-1, CRX, RP1 and NRL.
RESULTS: 148 ADRP index cases were examined at our hospital from June 1991 to September 2001. Genetic analysis detected the following mutations: 29 different families (19.5%) carried a RHO mutation among which the Pro-347-Leu was the most frequent one, five different RP-1 mutations (3.3%), 2 RDS mutations and one NRL mutation, which is the second reported in the world literature.
CONCLUSIONS: RHO followed by RP1 are the most frequent ADRP-causing genes in our series as in other published ones, and RDS causes mainly macular dystrophies. Molecular characterization was possible in 37 families (25%) which is of great interest for visual prognosis and genetic counselling.
Предметные рубрики MeSH
Amino Acid SubstitutionBasic-Leucine Zipper Transcription FactorsDNA Mutational AnalysisDNA-Binding ProteinsEye ProteinsGenes, DominantHomeodomain ProteinsHumansIntermediate Filament ProteinsMembrane GlycoproteinsMembrane ProteinsMicrotubule-Associated ProteinsMutationMutation, MissenseNerve Tissue ProteinsPeripherinsPoint MutationRetinitis PigmentosaRhodopsinTetraspaninsTrans-Activators