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Electrophysiology findings in a large family with central areolar choroidal dystrophy

Electrophysiology findings in a large family with central areolar choroidal dystrophy
Electrophysiology findings in a large family with central areolar choroidal dystrophy
All affected, but clinically normal, youngest generation patients had bilaterally abnormal PVEPs and PERGs. In CACD the PVEP and PERG proved to be the most sensitive electrophysiological tests of preclincial macular dysfunction, 3/3 subjects abnormal. ERG recording to ISCEV guidelines were very useful in these cases; 7/8 subjects abnormal. The EOG was less useful; 4/8 subjects abnormal. CACD produces a widespread photoreceptor dysfunction in its later stages.
central areolar choroidal dystrophy, chromosome 17p, electrophysiology, electroretinogram, visual evoked potential
0012-4486
103-119
Lotery, A J
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Silvestri, G
2a2ceb40-4464-4a87-b033-0cb6a0dcfc74
Collins, A D
7278ad0f-4ac4-4196-bf73-516bbab7d584
Lotery, A J
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Silvestri, G
2a2ceb40-4464-4a87-b033-0cb6a0dcfc74
Collins, A D
7278ad0f-4ac4-4196-bf73-516bbab7d584

Lotery, A J, Silvestri, G and Collins, A D (1998) Electrophysiology findings in a large family with central areolar choroidal dystrophy. Documenta Ophthalmologica, 97 (2), 103-119. (PMID:10765965)

Record type: Article

Abstract

All affected, but clinically normal, youngest generation patients had bilaterally abnormal PVEPs and PERGs. In CACD the PVEP and PERG proved to be the most sensitive electrophysiological tests of preclincial macular dysfunction, 3/3 subjects abnormal. ERG recording to ISCEV guidelines were very useful in these cases; 7/8 subjects abnormal. The EOG was less useful; 4/8 subjects abnormal. CACD produces a widespread photoreceptor dysfunction in its later stages.

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More information

Published date: 1998
Keywords: central areolar choroidal dystrophy, chromosome 17p, electrophysiology, electroretinogram, visual evoked potential
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 359194
URI: http://eprints.soton.ac.uk/id/eprint/359194
ISSN: 0012-4486
PURE UUID: e5a49065-cd02-4634-91ae-6dbbbd5b4e40
ORCID for A J Lotery: ORCID iD orcid.org/0000-0001-5541-4305

Catalogue record

Date deposited: 01 Nov 2013 15:57
Last modified: 09 Nov 2021 03:07

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Contributors

Author: A J Lotery ORCID iD
Author: G Silvestri
Author: A D Collins

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