PMID- 26580852
OWN - NLM
STAT- MEDLINE
DCOM- 20160308
LR  - 20151120
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Linking)
VI  - 56
IP  - 12
DP  - 2015 Nov
TI  - Visual Pathways in Humans With Ephrin-B1 Deficiency Associated With the 
      Cranio-Fronto-Nasal Syndrome.
PG  - 7427-37
LID - 10.1167/iovs.15-17705 [doi]
AB  - PURPOSE: Numerous animal studies demonstrated the importance of components of the 
      ephrin/Eph system for correct visual system development. Analogous investigations 
      in humans are entirely missing. Here, we examined the visual system in humans 
      with ephrin-B1 deficiency, which is x-linked and associated with the 
      cranio-fronto-nasal syndrome (CFNS) in heterozygous females. METHODS: For one 
      male hemizygous for ephrin-B1 deficiency and three affected heterozygous females 
      with molecular-genetically confirmed mutations, the integrity of the partial 
      decussation of the optic nerves was assessed with visual evoked potentials (VEPs) 
      and compared with albinotic, achiasmic, and control participants with healthy 
      vision. Further, retinal morphology and function and the gross-retinotopic 
      representation of the primary visual cortex were examined with spectral-domain 
      optical coherence tomography (SD-OCT), ERG, and multifocal (mf) VEPs for the male 
      participant and part of the carriers. RESULTS: Strabismus and lack of 
      stereovision was evident in the male and two of the females. Other 
      characteristics of the visual system organization and function were normal: (1) 
      retina: SD-OCT and funduscopy indicated normal foveal and optic nerve head 
      morphology. Electroretinograms indicated normal retinal function, (2) optic 
      chiasm: conventional (c)VEP showed no evidence for misrouting and mfVEPs were 
      only suggestive of, if any, very minor local misrouting, and (3) visual cortex: 
      mfVEP characteristics indicated normal retinotopic gross-representations of the 
      contralateral visual hemifield in each hemisphere. CONCLUSIONS: While ephrin-B1 
      deficiency leads to abnormal visual pathways in mice, it leaves the human visual 
      system, apart from deficits in binocular vision, largely normal. We presume that 
      other components of the ephrin-system can substitute the lack of ephrin-B1 in 
      humans.
FAU - Hoffmann, Michael B
AU  - Hoffmann MB
AD  - Department of Ophthalmology Otto-von-Guericke-University, Magdeburg, Germany 
      2Center for Behavioural Brain Sciences, Magdeburg, Germany.
FAU - Thieme, Hagen
AU  - Thieme H
AD  - Department of Ophthalmology Otto-von-Guericke-University, Magdeburg, Germany.
FAU - Liedecke, Karin
AU  - Liedecke K
AD  - Department of Ophthalmology Otto-von-Guericke-University, Magdeburg, Germany.
FAU - Meltendorf, Synke
AU  - Meltendorf S
AD  - Department of Ophthalmology Otto-von-Guericke-University, Magdeburg, Germany.
FAU - Zenker, Martin
AU  - Zenker M
AD  - Institute for Human Genetics, Otto-von-Guericke-University, Magdeburg, Germany.
FAU - Wieland, Ilse
AU  - Wieland I
AD  - Institute for Human Genetics, Otto-von-Guericke-University, Magdeburg, Germany.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (Ephrin-B1)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Animals
MH  - Craniofacial Abnormalities/*genetics/metabolism/physiopathology
MH  - DNA/*genetics
MH  - DNA Mutational Analysis
MH  - Ephrin-B1/deficiency/*genetics
MH  - Evoked Potentials, Visual
MH  - Female
MH  - Humans
MH  - Male
MH  - Mice
MH  - Middle Aged
MH  - *Mutation
MH  - Syndrome
MH  - Tomography, Optical Coherence
MH  - Visual Pathways/pathology/*physiopathology
MH  - Young Adult
EDAT- 2015/11/19 06:00
MHDA- 2016/03/10 06:00
CRDT- 2015/11/19 06:00
PHST- 2015/11/19 06:00 [entrez]
PHST- 2015/11/19 06:00 [pubmed]
PHST- 2016/03/10 06:00 [medline]
AID - 2471612 [pii]
AID - 10.1167/iovs.15-17705 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2015 Nov;56(12):7427-37. doi: 10.1167/iovs.15-17705.