Pattern dystrophies et variation phenotypique intrafamiliale [Pattern dystrophies and intrafamilial phenotypic variation]

Détails

ID Serval
serval:BIB_5346
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
Institution
Titre
Pattern dystrophies et variation phenotypique intrafamiliale [Pattern dystrophies and intrafamilial phenotypic variation]
Périodique
Klinische Monatsblätter für Augenheilkunde
Auteur(s)
Bernasconi O.R., Piguet B.
ISSN
0023-2165
Statut éditorial
Publié
Date de publication
1996
Volume
208
Numéro
5
Pages
291-293
Langue
français
Notes
Publication types: Case Reports ; English Abstract ; Journal Article
Résumé
BACKGROUND: Transmitted in an autosomal dominant fashion, the pattern dystrophies involve the retinal pigment epithelium and the external macular retina and are usually divided into four different entities. However, a progression from one form to another is possible, various forms may coexist in the same patient and a combination of different entities may be present in the same family. CASE REPORTS: Two families (4 cases) are described, in which a butterfly dystrophy coexist with a vitelliform dystrophy or with a central atrophy. Whereas the vitelliform dystrophy is usually characterised by a unique centromacular lesion, a case of multiple lesions is described. The possible association with a neovascular membrane is also presented. CONCLUSION: The coexistence of various forms of pattern dystrophies in a same family suggests a variable expression of a same genetic disorder. The presence of a centromacular atrophy in one patient demonstrates also that the spectrum of the disease is not limited to the four classic entities.
Mots-clé
Adult, Aged, Chromosome Aberrations/genetics, Chromosome Disorders, Corneal Dystrophies, Hereditary/classification, Corneal Dystrophies, Hereditary/diagnosis, Diagnosis, Differential, Fluorescein Angiography, Genes, Dominant/genetics, Humans, Macula Lutea/pathology, Male, Phenotype, Pigment Epithelium of Eye/pathology, Retinal Degeneration/classification, Retinal Degeneration/diagnosis, Retinal Neovascularization/classification, Retinal Neovascularization/diagnosis, Vitreoretinopathy, Proliferative/classification, Vitreoretinopathy, Proliferative/diagnosis
Pubmed
Web of science
Création de la notice
19/11/2007 13:41
Dernière modification de la notice
20/08/2019 15:08
Données d'usage