PMID- 25663266
OWN - NLM
STAT- MEDLINE
DCOM- 20150714
LR  - 20220408
IS  - 1573-2622 (Electronic)
IS  - 0012-4486 (Linking)
VI  - 130
IP  - 3
DP  - 2015 Jun
TI  - Electroretinography and optical coherence tomography reveal abnormal 
      post-photoreceptoral activity and altered retinal lamination in patients with 
      enhanced S-cone syndrome.
PG  - 165-77
LID - 10.1007/s10633-015-9487-9 [doi]
AB  - PURPOSE: To compare functional abnormalities of enhanced S-cone syndrome (ESCS), 
      as examined using standard and extended electroretinography (ERG), with 
      structural findings and retinal architecture obtained by spectral domain optical 
      coherence tomography (SD-OCT). METHODS: Four patients with ESCS underwent 
      standard full-field and multifocal ERGs, with extended S-cone and ON/OFF ERG 
      protocols also performed. SD-OCT was also carried out, and longitudinal 
      reflectivity profiles (LRPs) were calculated for the perifoveolar retina. 
      RESULTS: All four patients exhibited pathognomonic full-field ERG findings for 
      ESCS, with delayed responses of similar waveforms to the same intensity flash 
      under both scotopic and photopic conditions. The amplitudes of the full-field 
      ERGs showed considerable variation between patients, which were not related to 
      the extent of the visual field defects. Multifocal ERGs reflected preserved 
      central function in eyes with good visual acuity (Snellen visual acuity >0.7). 
      The ERGs to S-cone-specific stimulation confirmed the expected predominant 
      activity of the S-cone system in all four patients. The ON/OFF ERG recordings 
      revealed abnormal presence of both ON-response and OFF-response activities in 
      three patients; the remaining patient showed only OFF-response activity. SD-OCT 
      showed a significantly thickened outer nuclear layer in all four patients, as 
      obtained by LRP analysis. Furthermore, in the patient with selective preservation 
      of the OFF-response activity, LRP showed reduced numbers of hyper-reflectivity 
      sub-peaks in the inner plexiform layer. CONCLUSION: Patients with ESCS show 
      characteristic full-field ERG waveform abnormality, predominance of S-cone ERG 
      activity, and thickening of the outer nuclear layer on SD-OCT. Moreover, they can 
      also show abnormal post-photoreceptor connectivity through S-cone-related 
      OFF-bipolar cell activity.
FAU - Sustar, M
AU  - Sustar M
AD  - Eye Hospital, University Medical Centre, Grabloviceva 46, 1000, Ljubljana, 
      Slovenia, sustar.majchi@gmail.com.
FAU - Perovsek, D
AU  - Perovsek D
FAU - Cima, I
AU  - Cima I
FAU - Stirn-Kranjc, B
AU  - Stirn-Kranjc B
FAU - Hawlina, M
AU  - Hawlina M
FAU - Brecelj, J
AU  - Brecelj J
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150207
PL  - Netherlands
TA  - Doc Ophthalmol
JT  - Documenta ophthalmologica. Advances in ophthalmology
JID - 0370667
RN  - 0 (NR2E3 protein, human)
RN  - 0 (Orphan Nuclear Receptors)
RN  - Enhanced S-Cone Syndrome
SB  - IM
MH  - Adult
MH  - DNA Mutational Analysis
MH  - Electroretinography/*methods
MH  - Eye Diseases, Hereditary/*diagnosis/genetics/physiopathology
MH  - Female
MH  - Fluorescein Angiography
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Orphan Nuclear Receptors/genetics
MH  - Retina/*physiopathology
MH  - Retinal Cone Photoreceptor Cells/physiology
MH  - Retinal Degeneration/*diagnosis/genetics/physiopathology
MH  - Tomography, Optical Coherence/*methods
MH  - Vision Disorders/*diagnosis/genetics/physiopathology
MH  - Visual Acuity/physiology
MH  - Visual Fields/physiology
MH  - Young Adult
EDAT- 2015/02/11 06:00
MHDA- 2015/07/15 06:00
CRDT- 2015/02/10 06:00
PHST- 2014/06/30 00:00 [received]
PHST- 2015/01/26 00:00 [accepted]
PHST- 2015/02/10 06:00 [entrez]
PHST- 2015/02/11 06:00 [pubmed]
PHST- 2015/07/15 06:00 [medline]
AID - 10.1007/s10633-015-9487-9 [doi]
PST - ppublish
SO  - Doc Ophthalmol. 2015 Jun;130(3):165-77. doi: 10.1007/s10633-015-9487-9. Epub 2015 
      Feb 7.