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American Journal of Ophthalmology, ISSN 0002-9394, 04/2019, Volume 200, pp. 76 - 84
Variants in , a splicing factor, are a common cause of autosomal dominant retinitis pigmentosa (RP). Deleterious variants are thought to cause disease by... 
MESSENGER-RNA | OPTICAL COHERENCE TOMOGRAPHY | FAMILIES | GENES | OPHTHALMOLOGY | AUTOSOMAL-DOMINANT | PRPF31 | MUTATIONS | EXPRESSION | CELL-DEATH | HAPLOINSUFFICIENCY | Retinitis pigmentosa | Development and progression | Proteins | Statistical analysis | Retina | Genetic testing | Mutation | Patients | Deoxyribonucleic acid--DNA | Age
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 03/2019, Volume 60, Issue 4, pp. 1122 - 1131
PURPOSE. Dark-adapted visual fields were obtained from patients with inherited retinal degeneration (IRD) and controls to evaluate the effect that age, retinal... 
static perimetry | VISION | scotopic sensitivity | TEST-RETEST VARIABILITY | MICROPERIMETRY | CONE SENSITIVITY | ROD SENSITIVITY | PERIMETRY | OPHTHALMOLOGY | NORMAL VISUAL-FIELD | VALUES | DIFFERENTIAL LUMINANCE SENSITIVITY | inherited retinal degeneration | AGE | Visual Psychophysics and Physiological Optics
Journal Article
Survey of Ophthalmology, ISSN 0039-6257, 05/2019, Volume 64, Issue 3, pp. 353 - 364
Journal Article
Retina, ISSN 0275-004X, 04/2019, p. 1
PURPOSEChoroideremia is an incurable, X-linked, recessive retinal dystrophy caused by loss of function mutations in the CHM gene. It is estimated to affect... 
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 08/2019
ImportanceSensitive outcome measures for disease progression are needed for treatment trials of Stargardt disease. ObjectiveTo estimate the progression rate of... 
Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2011, Volume 108, Issue 15, pp. 6241 - 6245
Journal Article
Journal of Payments Strategy and Systems, ISSN 1750-1806, 06/2018, Volume 12, Issue 2, pp. 111 - 121
Journal Article
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 07/2014, Volume 132, Issue 7, pp. 866 - 866
  X-linked retinitis pigmentosa is a severe inherited retinal degenerative disease with a frequency of 1 in 100 000 persons. Because no cure is available for... 
Clinical trials | Retina | Eye diseases | Ophthalmology | Fatty acids
Journal Article
Human mutation, ISSN 1059-7794, 11/2017, Volume 38, Issue 11, pp. 1521 - 1533
The genetic heterogeneity of Mendelian disorders results in a significant proportion of patients that are unable to be assigned a confident molecular diagnosis... 
non-canonical splicing variants | Molecular diagnosis | minigene | variants of uncertain significance (VUS's) | Mendelian disease | inherited retinal degenerations
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 09/2013, Volume 131, Issue 9, pp. 1143 - 1143
  Determining the annual rate of change in the width of the inner segment ellipsoid zone (EZ; ie, inner/outer segment border) in the context of short-term... 
Measurement | Tomography | Retina | Eye diseases | Three dimensional imaging | Medical prognosis
Journal Article