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Published on: January 16, 2019
Syndromic retinitis pigmentosa: ERG and phenotypic changes
J Fleischhauer1, W A Njoh, G Niemeyer
1University Hospital of Zürich, Department of Ophthalmology, Zürich, Switzerland. johannes.fleischhauer@usz.ch
Purpose:
Our aim was to review the phenotype and extent of ERG changes in syndromic RP (SRP).
Patients And Methods:
A retrospective review of charts of 82 patients seen over the last 20 years with SRP was carried out. Clinical data were compared with changes in ERG. Full-field ERGs comprised selective rod-driven, maximal dark-adapted mixed responses, and isolated cone-driven signals. Occasionally, ERGs were recorded under brief general anaesthesia. ERG changes were classified as normal, reduced or extinguished.
Results:
Syndromic RP was diagnosed for the following entities: Usher (45 patients), Laurence-Moon-Bardet-Biedl (LMBB, 17 patients), Kearns-Sayre (10), Batten (6), Refsum (3), Senior-Loken (1). ERG changes varied in every subgroup and were therefore not specific for the syndromes.
Conclusion:
There was wide variation of clinical presentation in SRP, much as seen in isolated RP, often without obvious ophthalmoscopic changes. ERG testing is a prerequisite for differential diagnosis as well as for early detection of multiple handicaps.
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