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Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene.

Abstract To examine how severe congenital blindness resulting from mutations of the GUCY2D gene alters brain structure and function, and to relate these findings to the notable preservation of retinal architecture in this form of Leber congenital amaurosis (LCA).
PMID
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Authors

Mayor MeshTerms

Mutation

Keywords
Journal Title investigative ophthalmology & visual science
Publication Year Start




PMID- 28403437
OWN - NLM
STAT- MEDLINE
DA  - 20170413
DCOM- 20170418
LR  - 20170418
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Linking)
VI  - 58
IP  - 2
DP  - 2017 Feb 01
TI  - Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness
      Caused by Mutations in the GUCY2D Gene.
PG  - 959-973
LID - 10.1167/iovs.16-20413 [doi]
AB  - Purpose: To examine how severe congenital blindness resulting from mutations of
      the GUCY2D gene alters brain structure and function, and to relate these findings
      to the notable preservation of retinal architecture in this form of Leber
      congenital amaurosis (LCA). Methods: Six GUCY2D-LCA patients (ages 20-46) were
      studied with optical coherence tomography of the retina and multimodal magnetic
      resonance imaging (MRI) of the brain. Measurements from this group were compared 
      to those obtained from populations of normally sighted controls and people with
      congenital blindness of a variety of causes. Results: Patients with GUCY2D-LCA
      had preservation of the photoreceptors, ganglion cells, and nerve fiber layer.
      Despite this, visual function in these patients ranged from 20/160 acuity to no
      light perception, and functional MRI responses to light stimulation were
      attenuated and restricted. This severe visual impairment was reflected in
      substantial thickening of the gray matter layer of area V1, accompanied by an
      alteration of resting-state correlations within the occipital lobe, similar to a 
      comparison group of congenitally blind people with structural damage to the
      retina. In contrast to the comparison blind population, however, the GUCY2D-LCA
      group had preservation of the size of the optic chiasm, and the fractional
      anisotropy of the optic radiations as measured with diffusion tensor imaging was 
      also normal. Conclusions: These results identify dissociable effects of blindness
      upon the visual pathway. Further, the relatively intact postgeniculate white
      matter pathway in GUCY2D-LCA is encouraging for the prospect of recovery of
      visual function with gene augmentation therapy.
FAU - Aguirre, Geoffrey K
AU  - Aguirre GK
AD  - Department of Neurology, Perelman School of Medicine, University of Pennsylvania,
      Philadelphia, Pennsylvania, United States.
FAU - Butt, Omar H
AU  - Butt OH
AD  - Department of Neurology, Perelman School of Medicine, University of Pennsylvania,
      Philadelphia, Pennsylvania, United States.
FAU - Datta, Ritobrato
AU  - Datta R
AD  - Department of Neurology, Perelman School of Medicine, University of Pennsylvania,
      Philadelphia, Pennsylvania, United States.
FAU - Roman, Alejandro J
AU  - Roman AJ
AD  - Department of Ophthalmology, Perelman School of Medicine, University of
      Pennsylvania, Philadelphia, Pennsylvania, United States.
FAU - Sumaroka, Alexander
AU  - Sumaroka A
AD  - Department of Ophthalmology, Perelman School of Medicine, University of
      Pennsylvania, Philadelphia, Pennsylvania, United States.
FAU - Schwartz, Sharon B
AU  - Schwartz SB
AD  - Department of Ophthalmology, Perelman School of Medicine, University of
      Pennsylvania, Philadelphia, Pennsylvania, United States.
FAU - Cideciyan, Artur V
AU  - Cideciyan AV
AD  - Department of Ophthalmology, Perelman School of Medicine, University of
      Pennsylvania, Philadelphia, Pennsylvania, United States.
FAU - Jacobson, Samuel G
AU  - Jacobson SG
AD  - Department of Ophthalmology, Perelman School of Medicine, University of
      Pennsylvania, Philadelphia, Pennsylvania, United States.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (Receptors, Cell Surface)
RN  - 0 (guanylate cyclase 1)
RN  - EC 4.6.1.2 (Guanylate Cyclase)
SB  - IM
MH  - Adult
MH  - Brain/*physiopathology
MH  - Diffusion Tensor Imaging
MH  - Female
MH  - Guanylate Cyclase/*genetics
MH  - Humans
MH  - Leber Congenital Amaurosis/*genetics/physiopathology
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Nerve Fibers/pathology
MH  - Optic Chiasm/physiology
MH  - Photic Stimulation
MH  - Photoreceptor Cells, Vertebrate/*pathology
MH  - Receptors, Cell Surface/*genetics
MH  - Retinal Ganglion Cells/pathology
MH  - Tomography, Optical Coherence
MH  - Visual Acuity/physiology
MH  - Visual Pathways/physiopathology
MH  - Young Adult
PMC - PMC5308769
EDAT- 2017/04/14 06:00
MHDA- 2017/04/19 06:00
CRDT- 2017/04/14 06:00
AID - 2603130 [pii]
AID - 10.1167/iovs.16-20413 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):959-973. doi: 10.1167/iovs.16-20413.

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