Syndromic retinitis pigmentosa: ERG and phenotypic changes.
OBJECTIVE
Our aim was to review the phenotype and extent of ERG changes in syndromic RP (SRP).


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.


CONCLUSIONS
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.
Fleischhauer
J
J
University Hospital of Zürich, Department of Ophthalmology, Zürich, Switzerland. johannes.fleischhauer@usz.ch
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Niemeyer
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D004596:Electroretinography; D006801:Humans; D009887:Ophthalmoscopy; D010641:Phenotype; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D012189:Retrospective Studies; D013577:Syndrome