Macular and retinal dysfunction of unknown origin in adults with normal fundi: evidence for an autoimmune pathophysiology.

Details

Serval ID
serval:BIB_BAED2A34462D
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Macular and retinal dysfunction of unknown origin in adults with normal fundi: evidence for an autoimmune pathophysiology.
Journal
Experimental and molecular pathology
Author(s)
Mantel I., Ramchand K.V., Holder G.E., Ohbayashi M., Morohoshi K., Patel N., Toda M., Fitzke F.W., Bird A.C., Ono S.J.
ISSN
0014-4800
Publication state
Published
Issued date
2008
Peer-reviewed
Oui
Volume
84
Number
2
Pages
90-101
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
Here we report the discovery of and phenotypic characterization of a retinal disorder of unknown origin in adults using clinical, electrophysiological and psychophysical techniques, and to seek the presence of circulating retinal autoantibodies in the sera of these patients. Sixteen patients were identified with progressive bilateral visual loss over a period of months. Ten of the patients were male, and the average age was 55.3 years (range from 43 to 76 years). Known causes such as carcinoma-associated retinopathy, acute zonal occult outer retinopathy and hereditary cone dystrophy appeared unlikely. Investigations included electrophysiology, fundus autofluorescence imaging and psychophysical tests. The sera of these patients were analyzed with indirect immunocytochemistry and Western immunoblot analysis on murine (BALB/c) retinal tissue for the presence of retinal autoantibodies. Bilateral visual loss and photophobia progressed over a period of months to years (average 28.7 months, range 3-67) and subsequently stabilized. No abnormality was observed by biomicroscopy, angiography or autofluorescence imaging. Electrophysiology indicated predominant cone-system dysfunction, either macular or generalized, and post-phototransduction involvement in 9 patients (56%). Photopic and scotopic visual fields and dark adaptation kinetics showed both cone and rod system involvement in all cases. Heterogeneous immunohistochemical staining patterns were seen with the sera of these patients as compared with controls. A majority of the affected patients (9/15) stained with an antinuclear pattern. The retinal autoantibodies from the sera of most patients reacted with the retinal proteins of molecular weight between 34 and 40 kDa. The aetiology of this distinctive retinal disorder therefore appears to be mediated through an autoimmune mechanism.
Keywords
Adult, Aged, Animals, Autoantibodies/blood, Autoantigens/immunology, Autoimmune Diseases/immunology, Autoimmune Diseases/physiopathology, Electroretinography, Female, Fluorescent Antibody Technique, Indirect, Fundus Oculi, Humans, Macula Lutea/immunology, Macula Lutea/physiopathology, Male, Mice, Mice, Inbred BALB C, Microarray Analysis, Middle Aged, Ophthalmoscopy, Psychophysics/methods, Retinal Diseases/immunology, Retinal Diseases/physiopathology, Visual Fields/physiology
Pubmed
Web of science
Create date
14/02/2010 16:03
Last modification date
20/08/2019 15:28
Usage data