[Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)].
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.
Millá
E
E
Servicio de Oftalmología, Consorci Sanitari de Terrassa, Terrasa, Barcelona, España. elenmil@teleline.es
Maseras
M
M
Martínez-Gimeno
M
M
Gamundi
M J
MJ
Assaf
H
H
Esmerado
C
C
Carballo
M
M
D019943:Amino Acid Substitution; D050976:Basic-Leucine Zipper Transcription Factors; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005799:Genes, Dominant; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000235:genetics; D008869:Microtubule-Associated Proteins; D009154:Mutation; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics; D064531:Peripherins; D017354:Point Mutation; D012174:Retinitis Pigmentosa / Q000097:blood / Q000235:genetics* / Q000473:pathology; D012243:Rhodopsin / Q000235:genetics; D059470:Tetraspanins; D015534:Trans-Activators / Q000235:genetics
D050976:Basic-Leucine Zipper Transcription Factors; D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D008869:Microtubule-Associated Proteins; C490037:NRL protein, human; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; C513106:ROM1 protein, human; C120042:RP1 protein, human; D059470:Tetraspanins; D015534:Trans-Activators; C109288:cone rod homeobox protein; D012243:Rhodopsin