Mitochondrial DNA (mtDNA) A 3243G mutation associated with an annular perimacular retinal atrophy

Détails

ID Serval
serval:BIB_8A915D4E8382
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Mitochondrial DNA (mtDNA) A 3243G mutation associated with an annular perimacular retinal atrophy
Périodique
Klinische Monatsblätter für Augenheilkunde
Auteur(s)
Adjadj E., Mansouri K., Borruat F. X.
ISSN
0023-2165
Statut éditorial
Publié
Date de publication
2008
Peer-reviewed
Oui
Volume
225
Numéro
5
Pages
462-464
Langue
anglais
Résumé
BACKGROUND: A point mutation at the locus 3243 of the mitonchondrial DNA (mtDNA) is associated with either the MIDD syndrome (maternally inherited diabetes, deafness), the MELAS syndrome (myopathy, encephalitis, lactic acidosis, stroke) or cardiac, digestive, endocrine or exocrine dysfunctions. We report a peculiar maculopathy in two patients with an mtDNA 3243 mutation. HISTORY AND SIGNS: Case 1: A visually asymptomatic 40-year-old woman was examined for screening of diabetic retinopathy. Visual acuity was 10 / 10 in both eyes. Case 2: A 54-year-old woman with deafness and diabetes complained of visual loss. Visual acuity was 6 / 10 for the right eye and 0.5 / 10 for the left eye. Both patients exhibited a chorioretinal areolar atrophy. Case 1 was followed over 15 years and exhibited a slow progression of the maculopathy with moderate loss of visual acuity to 6 / 10 in both eyes, but marked handicap from the annular scotoma. THERAPY AND OUTCOME: None. CONCLUSION: Both patients presented a perimacular annular retinal atrophy. Patients harbouring mtDNA 3243 mutation should be examined for the presence of a maculopathy, even if they are asymptomatic. Conversely, the finding of such a geographic maculopathy should suggest the possibility of a point mutation at the locus 3243 of the mitochondrial DNA, especially in the presences of diabetes mellitus and/or deafness
Mots-clé
Adult , Atrophy , diagnosis , Dna , DNA,Mitochondrial , Eye , Female , Genetic Predisposition to Disease , genetics , history , Humans , Macular Degeneration , Middle Aged , Mutation , Patients , Point Mutation , Retinal Diseases , Stroke , Switzerland , therapy , Visual Acuity
Pubmed
Web of science
Création de la notice
29/01/2009 23:14
Dernière modification de la notice
03/03/2018 19:10
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