Document Detail

Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.
MedLine Citation:
PMID:  11730668     Owner:  NLM     Status:  MEDLINE    
PURPOSE: To report a late-onset cone-rod dystrophy that revealed a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome as a consequence of the T8993G mitochondrial mutation. METHODS: Observational case series. A 42-year-old female disclosed a late-onset retinal dystrophy. The family history revealed that her three sons, one of them deceased at the age of 4, had mental and neurologic impairment of variable severity. The retinal dystrophy of the mother was classified as a cone-rod dystrophy. Retinal dystrophy was subsequently diagnosed in the two surviving sons. Screening for mutation in the mitochondrial DNA (mtDNA) was performed because of the combination of neurologic involvement and retinal dystrophy in this family. RESULTS: Molecular analysis of the mtDNA revealed the ATPase-6 gene T8993G mutation in the mother and the two sons. CONCLUSION: This family illustrates the remarkably variable expression of retinal and systemic manifestations related to the T8993G mutation ranging from an isolated late-onset cone-rod dystrophy to a severe neurodegenerative process with a dramatic outcome. Genetic counseling for retinal dystrophies requires careful evaluation of the familial medical history.
F B Porto; G Mack; M J Sterboul; P Lewin; J Flament; J Sahel; H Dollfus
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of ophthalmology     Volume:  132     ISSN:  0002-9394     ISO Abbreviation:  Am. J. Ophthalmol.     Publication Date:  2001 Dec 
Date Detail:
Created Date:  2001-12-03     Completed Date:  2002-01-17     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0370500     Medline TA:  Am J Ophthalmol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  935-7     Citation Subset:  AIM; IM    
Ophthalmologic Clinic, University Hospitals of Strasbourg, 1 Place de l'Hôpital, 67091 Strasbourg Cedex, France.
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MeSH Terms
Adenosine Triphosphatases / genetics
Ataxia / diagnosis,  genetics*
Child, Preschool
DNA Mutational Analysis
DNA, Mitochondrial / genetics*
Mitochondria / genetics
Mitochondrial Myopathies / diagnosis,  genetics*
Muscle Weakness / diagnosis,  genetics*
Photoreceptor Cells, Vertebrate / pathology*
Point Mutation*
Retinal Degeneration / diagnosis,  genetics*
Retinitis Pigmentosa / diagnosis,  genetics*
Reg. No./Substance:
0/DNA, Mitochondrial; EC 3.6.1.-/Adenosine Triphosphatases

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

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