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High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.

Abstract Mutations in retinitis pigmentosa GTPase regulator (RPGR) cause 70% to 90% of X-linked retinitis pigmentosa (XLRP3) cases, making this gene a high-yield target for gene therapy. This study analyzed the utility of relevant clinical biomarkers to assess symmetry and rate of progression in XLRP3.
PMID
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Authors

Mayor MeshTerms

Mutation

Keywords
Journal Title investigative ophthalmology & visual science
Publication Year Start




PMID- 28863407
OWN - NLM
STAT- MEDLINE
DA  - 20170901
DCOM- 20170908
LR  - 20170908
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Linking)
VI  - 58
IP  - 11
DP  - 2017 Sep 01
TI  - High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis
      Pigmentosa.
PG  - 4457-4466
LID - 10.1167/iovs.17-22077 [doi]
AB  - Purpose: Mutations in retinitis pigmentosa GTPase regulator (RPGR) cause 70% to
      90% of X-linked retinitis pigmentosa (XLRP3) cases, making this gene a high-yield
      target for gene therapy. This study analyzed the utility of relevant clinical
      biomarkers to assess symmetry and rate of progression in XLRP3. Methods: A
      retrospective, cross-sectional analysis of 50 XLRP3 patients extracted clinical
      data including visual acuity (VA), visual fields (I4e and III4e targets), foveal 
      thickness, and ERG data points alongside molecular genetic data. Symmetry was
      assessed by using linear regression analysis. Kaplan-Meier survival curves (KMCs)
      and generalized linear mixed model calculations were used to describe disease
      progression. Results: Ninety-six percent of patients exhibited a rod-cone
      phenotype, and 4% a cone-rod phenotype. Open reading frame 15 (ORF15) was
      confirmed as a mutational hotspot within RPGR harboring 73% of exonic mutations. 
      Significant variability, but no clear genotype-phenotype relationship, could be
      shown between mutations located in exons 1-14 versus ORF15. All biomarkers
      suggested a high degree of symmetry between eyes but demonstrated different
      estimates of disease progression. VA and foveal thickness, followed by perimetry 
      III4e, were the most useful endpoints to evaluate progression. KMC estimates
      predicted a loss of 6/6 vision at a mean of 34 years (+/-2.9; 95% confidence
      interval). Conclusions: XLRP3 affects retinal structure and function
      symmetrically, supporting the use of the fellow eye as an internal control in
      interventional trials. VA and kinetic visual fields (III4e) seem promising
      functional outcome measures to assess disease progression. KMC analysis predicted
      the most severe decline in vision between the third and fourth decade of life.
FAU - Bellingrath, Julia-Sophia
AU  - Bellingrath JS
AD  - University Eye Hospital, Centre for Ophthalmology, University Hospital Tubingen, 
      Tubingen, Germany.
AD  - Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital 
      Tubingen, Tubingen, Germany.
AD  - Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical
      Neurosciences, University of Oxford, Oxford, United Kingdom.
FAU - Ochakovski, G Alex
AU  - Ochakovski GA
AD  - University Eye Hospital, Centre for Ophthalmology, University Hospital Tubingen, 
      Tubingen, Germany.
AD  - Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital 
      Tubingen, Tubingen, Germany.
FAU - Seitz, Immanuel P
AU  - Seitz IP
AD  - University Eye Hospital, Centre for Ophthalmology, University Hospital Tubingen, 
      Tubingen, Germany.
AD  - Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital 
      Tubingen, Tubingen, Germany.
FAU - Kohl, Susanne
AU  - Kohl S
AD  - Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital 
      Tubingen, Tubingen, Germany.
FAU - Zrenner, Eberhart
AU  - Zrenner E
AD  - University Eye Hospital, Centre for Ophthalmology, University Hospital Tubingen, 
      Tubingen, Germany.
AD  - Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital 
      Tubingen, Tubingen, Germany.
FAU - Hanig, Nicola
AU  - Hanig N
AD  - Centre for Genomics and Transcriptomics, Tubingen, Germany.
FAU - Prokisch, Holger
AU  - Prokisch H
AD  - Institute of Human Genetics, Helmholtz Zentrum Munchen, Munich, Germany.
FAU - Weber, Bernhard H
AU  - Weber BH
AD  - Institute of Human Genetics, University of Regensburg, Regensburg, Germany.
FAU - Downes, Susan M
AU  - Downes SM
AD  - Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical
      Neurosciences, University of Oxford, Oxford, United Kingdom.
AD  - Oxford Eye Hospital, Oxford University Hospitals, NHS Foundation Trust, United
      Kingdom.
FAU - Ramsden, Simon
AU  - Ramsden S
AD  - Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, 
      NHS Foundation Trust, United Kingdom.
FAU - MacLaren, Robert E
AU  - MacLaren RE
AD  - Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical
      Neurosciences, University of Oxford, Oxford, United Kingdom.
AD  - Oxford Eye Hospital, Oxford University Hospitals, NHS Foundation Trust, United
      Kingdom.
AD  - Moorfields Eye Hospital NHS Foundation Trust, United Kingdom.
FAU - Fischer, M Dominik
AU  - Fischer MD
AD  - University Eye Hospital, Centre for Ophthalmology, University Hospital Tubingen, 
      Tubingen, Germany.
AD  - Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital 
      Tubingen, Tubingen, Germany.
AD  - Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical
      Neurosciences, University of Oxford, Oxford, United Kingdom.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (Eye Proteins)
RN  - 0 (RPGR protein, human)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Child
MH  - Cohort Studies
MH  - Cross-Sectional Studies
MH  - Disease Progression
MH  - Electroretinography
MH  - Exons
MH  - Eye Proteins/*genetics
MH  - Genetic Diseases, X-Linked/diagnosis/*genetics/physiopathology
MH  - Humans
MH  - Kaplan-Meier Estimate
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Open Reading Frames/genetics
MH  - Phenotype
MH  - Retinitis Pigmentosa/diagnosis/*genetics/physiopathology
MH  - Retrospective Studies
MH  - Visual Acuity/*physiology
MH  - Visual Field Tests
MH  - Visual Fields/*physiology
EDAT- 2017/09/02 06:00
MHDA- 2017/09/09 06:00
CRDT- 2017/09/02 06:00
AID - 2653225 [pii]
AID - 10.1167/iovs.17-22077 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4457-4466. doi:
      10.1167/iovs.17-22077.