CRX-linked macular dystrophy with intrafamilial variable expressivity.

Détails

ID Serval
serval:BIB_B8469959632B
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
CRX-linked macular dystrophy with intrafamilial variable expressivity.
Périodique
Ophthalmic genetics
Auteur(s)
Romdhane K., Vaclavik V., Schorderet D.F., Munier F.L., Viet Tran H.
ISSN
1744-5094 (Electronic)
ISSN-L
1381-6810
Statut éditorial
Publié
Date de publication
10/2018
Peer-reviewed
Oui
Volume
39
Numéro
5
Pages
637-641
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Résumé
We present a macular dystrophy of differing severity in a single kindred caused by a heterozygous nonsense mutation in CRX.
A 21-year-old Caucasian male from a Swiss family was investigated for decreasing central visual acuity associated with dischromatopsia. Clinical examination revealed posterior pole atrophy, including the maculopapillary bundle. Multimodal imaging, including autofluorescence, showed a hyperautofluorescent paramacular ring in both eyes. Genetic analysis identified a c.313C>T, p.Q105* nonsense mutation in CRX. The same mutation was identified in his father and uncle. Both of them showed signs of the disease, however with different severity.
We describe an intrafamilial variable expressivity of a CRX mutation causing an isolated macular dystrophy.
Mots-clé
Adult, Codon, Nonsense, Female, Heterozygote, Homeodomain Proteins/genetics, Humans, Macular Degeneration/genetics, Macular Degeneration/pathology, Male, Pedigree, Prognosis, Severity of Illness Index, Trans-Activators/genetics, Young Adult, CRX, macular dystrophy, mutation, variable expressivity
Pubmed
Web of science
Création de la notice
07/08/2018 8:56
Dernière modification de la notice
20/08/2019 15:26
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