Document Detail


Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa.
MedLine Citation:
PMID:  10502575     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
AIM: X linked retinitis pigmentosa (XLRP) has two genetic loci known as "RP2" and "RP3". Clinical features reported to differentiate RP2 from RP3 include a higher prevalence of myopia and primary cone dysfunction in RP2, and late onset night blindness and tapetal reflex in RP3. Members from 14 XLRP families were examined in an attempt to verify these differences. METHODS: 16 affected males and 37 females from 14 XLRP families assigned as either RP2 or RP3 by haplotype analysis and/or by heterogeneity analysis were examined. Members of all 14 families who were willing to participate but unavailable for examination were contacted and detailed interviews carried out. RESULTS: No clear phenotypic differences were found that could be used to reliably differentiate RP2 from RP3 with respect to myopia and onset of night blindness. The tapetal reflex was also found to be present in carriers of both RP2 and RP3. CONCLUSIONS: XLRP is a heterogeneous class of rod degenerative disorders with no clear phenotypic differentiation between the two genetic loci RP2 and RP3. There is a continuum of clinical presentations which can be seen in both RP2 and RP3, but the features within a given family tend to be consistent. However, interfamilial variability is prevalent leading to a wide range of clinical presentations and more than one abnormal allele at each gene locus cannot be excluded.
Authors:
C J Flaxel; M Jay; D L Thiselton; M Nayudu; A J Hardcastle; A Wright; A C Bird
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The British journal of ophthalmology     Volume:  83     ISSN:  0007-1161     ISO Abbreviation:  Br J Ophthalmol     Publication Date:  1999 Oct 
Date Detail:
Created Date:  2000-01-11     Completed Date:  2000-01-11     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0421041     Medline TA:  Br J Ophthalmol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1144-8     Citation Subset:  IM    
Affiliation:
Currently affiliated with the University of Southern California, Doheny Eye Institute, Los Angeles, CA, USA.
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Eye Proteins*
Female
Fundus Oculi
Heterozygote
Humans
Intracellular Signaling Peptides and Proteins
Linkage (Genetics)*
Male
Membrane Proteins
Middle Aged
Myopia / etiology
Night Blindness / etiology
Phenotype
Proteins / genetics*
Retinitis Pigmentosa / complications,  genetics*
X Chromosome*
Chemical
Reg. No./Substance:
0/Eye Proteins; 0/Intracellular Signaling Peptides and Proteins; 0/Membrane Proteins; 0/Proteins; 0/RP2 protein, human; 0/RPGR protein, human
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