PubTransformer

A site to transform Pubmed publications into these bibliographic reference formats: ADS, BibTeX, EndNote, ISI used by the Web of Knowledge, RIS, MEDLINE, Microsoft's Word 2007 XML.




PMID- 28763557
OWN - NLM
STAT- MEDLINE
DA  - 20170801
DCOM- 20170803
LR  - 20170803
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Linking)
VI  - 58
IP  - 10
DP  - 2017 Aug 01
TI  - C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis
      Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.
PG  - 3840-3850
LID - 10.1167/iovs.17-21597 [doi]
AB  - Purpose: To define the phenotype of C2orf71 associated retinopathy and to present
      novel mutations in this gene. Methods: A retrospective multicenter study of
      patients with retinopathy and identified C2orf71 mutations was performed. Ocular 
      function (visual acuity, visual fields, electroretinogram [ERG] responses);
      retinal morphology (fundus, optical coherence tomography); and underlying
      mutations were analyzed. Results: Thirteen patients from 11 families, who were
      aged 7 to 63 years (mean: 32.1 years) at their first examination with presumed
      compound heterozygous (6/13 patients) or homozygous (7/13 patients) C2orf71
      mutations were identified. Eight of the mutations were novel. Truncation
      mutations were responsible in all cases. Nyctalopia was observed in less than 50%
      of patients. Visual acuity ranged from 20/20 to light perception. Severe visual
      loss was associated with atrophic maculopathy. Full-field ERG responses showed
      severe progressive cone-rod or rod-cone dysfunction. Typical fundus changes were 
      progressive symmetrical retinopathy with an early mild maculopathy and patchy
      circular midperipheral RPE atrophy. Normal retinal lamination was preserved
      despite early disruption of the ellipsoid zone and RPE irregularities. Outer
      retinal tubulations were associated with better-preserved visual acuity.
      Conclusions: On the basis of our multicenter analysis, C2orf71 might represent a 
      more frequently mutated gene in autosomal recessive retinitis pigmentosa in some 
      populations. The phenotype analysis over a wide age range showed a variable and
      progressive retinal degeneration with early onset maculopathy and a better visual
      potential before the age of 30 years.
FAU - Gerth-Kahlert, Christina
AU  - Gerth-Kahlert C
AD  - Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.
FAU - Tiwari, Amit
AU  - Tiwari A
AD  - Institute of Medical Molecular Genetics, University of Zurich, Schlieren,
      Switzerland.
FAU - Hanson, James V M
AU  - Hanson JVM
AD  - Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.
FAU - Batmanabane, Vaishnavi
AU  - Batmanabane V
AD  - Department of Ophthalmology and Vision Sciences, The Hospital of Sick Children,
      Toronto, Canada.
FAU - Traboulsi, Elias
AU  - Traboulsi E
AD  - Cole Eye Institute, Cleveland Clinic, Cleveland, United States.
FAU - Pennesi, Mark E
AU  - Pennesi ME
AD  - Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science
      University, Portland, Oregon, United States.
FAU - Al-Qahtani, Abdullah A
AU  - Al-Qahtani AA
AD  - Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science
      University, Portland, Oregon, United States 6King Fahd University Hospital,
      University of Dammam, Dammam, Saudi Arabia.
FAU - Lam, Byron L
AU  - Lam BL
AD  - Bascom Palmer Eye Institute, Miami, United States.
FAU - Heckenlively, John
AU  - Heckenlively J
AD  - University of Michigan Department of Ophthalmology and Visual Sciences, Ann
      Arbor, Michigan, United States.
FAU - Zweifel, Sandrine A
AU  - Zweifel SA
AD  - Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.
FAU - Vincent, Ajoy
AU  - Vincent A
AD  - Department of Ophthalmology and Vision Sciences, The Hospital of Sick Children,
      Toronto, Canada.
FAU - Fierz, Fabienne
AU  - Fierz F
AD  - Eye Clinic, Lucerne Cantonal Hospital, Lucerne, Switzerland.
FAU - Barthelmes, Daniel
AU  - Barthelmes D
AD  - Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.
FAU - Branham, Kari
AU  - Branham K
AD  - University of Michigan Department of Ophthalmology and Visual Sciences, Ann
      Arbor, Michigan, United States.
FAU - Khan, Naheed
AU  - Khan N
AD  - University of Michigan Department of Ophthalmology and Visual Sciences, Ann
      Arbor, Michigan, United States.
FAU - Bahr, Angela
AU  - Bahr A
AD  - Institute of Medical Molecular Genetics, University of Zurich, Schlieren,
      Switzerland.
FAU - Baehr, Luzy
AU  - Baehr L
AD  - Institute of Medical Molecular Genetics, University of Zurich, Schlieren,
      Switzerland.
FAU - Magyar, Istvan
AU  - Magyar I
AD  - Institute of Medical Molecular Genetics, University of Zurich, Schlieren,
      Switzerland.
FAU - Koller, Samuel
AU  - Koller S
AD  - Institute of Medical Molecular Genetics, University of Zurich, Schlieren,
      Switzerland.
FAU - Azzarello-Burri, Silvia
AU  - Azzarello-Burri S
AD  - Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
FAU - Niedrist, Dunja
AU  - Niedrist D
AD  - Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
FAU - Heon, Elise
AU  - Heon E
AD  - Department of Ophthalmology and Vision Sciences, The Hospital of Sick Children,
      Toronto, Canada.
FAU - Berger, Wolfgang
AU  - Berger W
AD  - Institute of Medical Molecular Genetics, University of Zurich, Schlieren,
      Switzerland 11Zurich Center for Integrative Human Physiology, University of
      Zurich, Zurich, Switzerland 12Neuroscience Center Zurich, University and ETH
      Zurich, Zurich, Switzerland.
LA  - eng
PT  - Journal Article
PT  - Multicenter Study
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (C2orf71 protein, human)
RN  - 0 (Eye Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Electroretinography
MH  - Eye Proteins/*genetics
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Phenotype
MH  - Retinitis Pigmentosa/*genetics/physiopathology
MH  - Retrospective Studies
MH  - Visual Acuity/physiology
MH  - Visual Fields/physiology
MH  - Young Adult
EDAT- 2017/08/02 06:00
MHDA- 2017/08/05 06:00
CRDT- 2017/08/02 06:00
AID - 2646832 [pii]
AID - 10.1167/iovs.17-21597 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):3840-3850. doi:
      10.1167/iovs.17-21597.