Document Detail


Clinical variability in a family with X-linked retinal dystrophy and the locus at the RP3 site.
MedLine Citation:
PMID:  1923319     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
One large Australian family with X-linked retinal dystrophy was found to have extreme clinical variability in the hemizygotes. One member had the typical rod-cone disease, three had the cone-rod pattern and one had macroscopic changes in the macular area only, but with low potentials in the ERG. The locus for the disease was found to be distal to L1.28 at Xp21, the site for RP3. From a study of case histories reported it seems that clinical variability can be a common feature of X-linked retinitis pigmentosa (XLRP) with the locus at Xp11.3 (RP2) or at Xp21 (RP3), and this family may well be categorized as XLRP.
Authors:
C G Keith; M J Denton; J D Chen
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Ophthalmic paediatrics and genetics     Volume:  12     ISSN:  0167-6784     ISO Abbreviation:  Ophthalmic Paediatr Genet     Publication Date:  1991 Jun 
Date Detail:
Created Date:  1991-11-20     Completed Date:  1991-11-20     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  8206832     Medline TA:  Ophthalmic Paediatr Genet     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  91-8     Citation Subset:  IM    
Affiliation:
Royal Children's Hospital, Melbourne, Australia.
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Chromosome Mapping
Chromosomes, Human, Pair 21*
Female
Fundus Oculi
Genetic Variation
Humans
Linkage (Genetics)
Macular Degeneration / genetics*
Male
Middle Aged
Pedigree
Photoreceptor Cells / pathology
Pigment Epithelium of Eye / pathology
Retinitis Pigmentosa / genetics*
X Chromosome*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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