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

Details

Serval ID
serval:BIB_5346
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Pattern dystrophies et variation phenotypique intrafamiliale [Pattern dystrophies and intrafamilial phenotypic variation]
Journal
Klinische Monatsblätter für Augenheilkunde
Author(s)
Bernasconi O.R., Piguet B.
ISSN
0023-2165
Publication state
Published
Issued date
1996
Volume
208
Number
5
Pages
291-293
Language
french
Notes
Publication types: Case Reports ; English Abstract ; Journal Article
Abstract
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.
Keywords
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
Create date
19/11/2007 13:41
Last modification date
20/08/2019 15:08
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