PMID- 17488458
OWN - NLM
STAT- MEDLINE
DCOM- 20070626
LR  - 20220309
IS  - 1395-3907 (Print)
IS  - 1395-3907 (Linking)
VI  - 85
IP  - 3
DP  - 2007 May
TI  - Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up 
      study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG 
      and I179F.
PG  - 287-97
AB  - PURPOSE: To examine the clinical picture and molecular genetics of 12 Norwegian 
      families with autosomal dominant retinitis pigmentosa (adRP) in order to achieve 
      a genotype-phenotype correlation. METHODS: In addition to a clinical 
      ophthalmological examination, fundus photography, dark adaptometry and 
      electroretinography were performed. Four genes were analysed: rhodopsin (RHO); 
      retinitis pigmentosa 1 (RP1); retinal degeneration slow/peripherin 
      (RDS/peripherin), and inosine monophosphate dehydrogenase 1 (IMPDH1). Seven of 
      the families had been examined about 20 years previously. A total of 63 patients 
      or first-degree relatives (aged 18-79 years) were examined. RESULTS: Mutations 
      were found only in the RHO gene. Seven families were given a diagnosis of 
      classical RP. Two of them had novel mutation 1003delG, and one family had the 
      mutation V345M. Four families had pericentral retinal dystrophy (PRD), two 
      families with the mutation A164V and one with novel mutation I179F. One family 
      was given a diagnosis of central and pericentral retinal dystrophy (CPRD), a 
      special type of cone/rod dystrophy, and no mutation was found. CONCLUSIONS: Six 
      of 12 families had an RHO mutation. The mutation V345M and the novel mutation 
      1003delG both caused classical RP, the former indicating the most unfavourable 
      prognosis. Two of the families with PRD had the A164V mutation with a favourable 
      prognosis, whereas the novel mutation I179F caused PRD with extremely variable 
      expressivity.
FAU - Grondahl, Jan
AU  - Grondahl J
AD  - Department of Medical Genetics, University Hospital, Rikshospitalet, Oslo, 
      Norway.
FAU - Riise, Ruth
AU  - Riise R
FAU - Heiberg, Arvid
AU  - Heiberg A
FAU - Leren, Trond
AU  - Leren T
FAU - Christoffersen, Terje
AU  - Christoffersen T
FAU - Bragadottir, Ragnheidur
AU  - Bragadottir R
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Denmark
TA  - Acta Ophthalmol Scand
JT  - Acta ophthalmologica Scandinavica
JID - 9507578
RN  - 0 (Eye Proteins)
RN  - 0 (Intermediate Filament Proteins)
RN  - 0 (Membrane Glycoproteins)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (PRPH protein, human)
RN  - 0 (PRPH2 protein, human)
RN  - 0 (Peripherins)
RN  - 0 (RP1 protein, human)
RN  - 9009-81-8 (Rhodopsin)
RN  - EC 1.1.1.205 (IMP Dehydrogenase)
RN  - EC 1.1.1.205 (IMPDH1 protein, human)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - DNA Mutational Analysis
MH  - Dark Adaptation
MH  - Electroretinography
MH  - Eye Proteins/genetics
MH  - Female
MH  - Follow-Up Studies
MH  - *Frameshift Mutation
MH  - Genes, Dominant
MH  - Humans
MH  - IMP Dehydrogenase/genetics
MH  - Intermediate Filament Proteins/genetics
MH  - Male
MH  - Membrane Glycoproteins/genetics
MH  - Microtubule-Associated Proteins
MH  - Middle Aged
MH  - *Mutation, Missense
MH  - Nerve Tissue Proteins/genetics
MH  - Norway/epidemiology
MH  - Pedigree
MH  - Peripherins
MH  - Phenotype
MH  - Photography
MH  - Polymerase Chain Reaction
MH  - Retinitis Pigmentosa/diagnosis/epidemiology/*genetics
MH  - Rhodopsin/*genetics
MH  - Visual Fields
EDAT- 2007/05/10 09:00
MHDA- 2007/06/27 09:00
CRDT- 2007/05/10 09:00
PHST- 2007/05/10 09:00 [pubmed]
PHST- 2007/06/27 09:00 [medline]
PHST- 2007/05/10 09:00 [entrez]
AID - AOS820 [pii]
AID - 10.1111/j.1600-0420.2006.00820.x [doi]
PST - ppublish
SO  - Acta Ophthalmol Scand. 2007 May;85(3):287-97. doi: 
      10.1111/j.1600-0420.2006.00820.x.