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

Détails

ID Serval
serval:BIB_7F3F7BC8A534
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration.
Périodique
Retina
Auteur(s)
Vincent A., Munier F.L., Vandenhoven C.C., Wright T., Westall C.A., Héon E.
ISSN
1539-2864 (Electronic)
ISSN-L
0275-004X
Statut éditorial
Publié
Date de publication
2012
Peer-reviewed
Oui
Volume
32
Numéro
8
Pages
1643-1651
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Résumé
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.
Mots-clé
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
Création de la notice
21/02/2013 10:53
Dernière modification de la notice
03/03/2018 18:43
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