The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration.

Details

Serval ID
serval:BIB_7F3F7BC8A534
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration.
Journal
Retina
Author(s)
Vincent A., Munier F.L., Vandenhoven C.C., Wright T., Westall C.A., Héon E.
ISSN
1539-2864 (Electronic)
ISSN-L
0275-004X
Publication state
Published
Issued date
2012
Peer-reviewed
Oui
Volume
32
Number
8
Pages
1643-1651
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Abstract
PURPOSE: To describe the clinical, spectral-domain optical coherence tomography and electrophysiological features of C1QTNF5-associated late-onset retinal degeneration in a molecularly confirmed pedigree.
METHODS: Five members of a family participated, and affected individuals (n = 4) underwent detailed ophthalmologic evaluation including fundus autofluorescence and spectral-domain optical coherence tomography imaging and electroretinography. Electrooculography was performed in three individuals.
RESULTS: The visual acuity was initially normal and worsened with time. Anterior segment abnormalities included peripupillary iris atrophy and long anterior insertion of zonules. Peripapillary atrophy, drusenoid deposition, and scalloped sectorial chorioretinal atrophy were observed in all older individuals (n = 3). Fundus autofluorescence demonstrated hypofluorescent areas corresponding to regions of chorioretinal atrophy. The spectral-domain optical coherence tomography demonstrated multiple areas of retinal pigment epithelium-Bruch membrane separation with intervening homogeneous deposition that corresponded to the drusenoid lesions and areas of chorioretinal atrophy. Electrooculography was normal in one individual and showed abnormally low dark trough measures in older individuals (n = 2). Electroretinography was normal in early stages (n = 1), but showed marked abnormalities in the rod system (n = 3), which was predominantly inner retinal (n = 2) in late stages.
CONCLUSION: Late-onset retinal degeneration is a progressive degeneration, and anterior segment abnormalities present early. The widespread sub-retinal pigment epithelium deposition seen on spectral-domain optical coherence tomography in older individuals appears to be a characteristic in late stages. Electrooculography demonstrates abnormalities only in late stages of the disease.
Keywords
Adult, Aged, Collagen/genetics, Corneal Dystrophies, Hereditary/diagnosis, Disease Progression, Electrooculography, Electroretinography, Female, Humans, Male, Middle Aged, Optic Atrophy/diagnosis, Pedigree, Phenotype, Retina/physiopathology, Retinal Degeneration/diagnosis, Retinal Degeneration/genetics, Retinal Drusen/diagnosis, Retinal Pigment Epithelium/pathology, Tomography, Optical Coherence, Visual Acuity/physiology, Visual Fields/physiology
Pubmed
Web of science
Create date
21/02/2013 9:53
Last modification date
20/08/2019 14:40
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