CRX-linked macular dystrophy with intrafamilial variable expressivity.

Details

Serval ID
serval:BIB_B8469959632B
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
CRX-linked macular dystrophy with intrafamilial variable expressivity.
Journal
Ophthalmic genetics
Author(s)
Romdhane K., Vaclavik V., Schorderet D.F., Munier F.L., Viet Tran H.
ISSN
1744-5094 (Electronic)
ISSN-L
1381-6810
Publication state
Published
Issued date
10/2018
Peer-reviewed
Oui
Volume
39
Number
5
Pages
637-641
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Abstract
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.
Keywords
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
Create date
07/08/2018 8:56
Last modification date
20/08/2019 15:26
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