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New England Journal of Medicine, ISSN 0028-4793, 05/2015, Volume 372, Issue 20, pp. 1887 - 1897
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/1998, Volume 55, Issue 10, p. 705
BackgroundRetinitis pigmentosa (RP) shows substantial genetic heterogeneity. It has been estimated that in approximately 60%–80% of RP cases, the genetic... 
Journal Article
Journal Article
Ophthalmology, ISSN 0161-6420, 2016, Volume 123, Issue 6, pp. 1375 - 1385
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 05/2019, Volume 60, Issue 6, pp. 2049 - 2063
PURPOSE. To assess the phenotypic variability and natural course of inherited retinal diseases (IRDs) caused by EYS mutations. METHODS. Multiethnic cohort... 
ORTHOLOG | RECESSIVE RETINITIS-PIGMENTOSA | macular dystrophy | IDENTIFICATION | inherited retinal disease | GENE | retinitis pigmentosa | OPHTHALMOLOGY | cone-rod dystrophy | MUTATIONS | JAPANESE PATIENTS | EYS | PROGRESSION
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 09/2018, Volume 59, Issue 11, pp. 4384 - 4391
To describe the phenotypic spectrum of retinal disease caused by the c.2991+1655A>G mutation in CEP290 and to compare disease severity between homozygous and... 
Visual development | Retina | Low vision | Genetic diseases | Retinal dystrophy | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2015, Volume 10, Issue 12, pp. e0143846 - e0143846
Restoring vision in inherited retinal degenerations remains an unmet medical need. In mice exhibiting a genetically engineered block of the visual cycle,... 
Vitamin A - pharmacology | Vitamin A - analogs & derivatives | Humans | Middle Aged | Male | Visual Fields - drug effects | Acyltransferases - metabolism | Acyltransferases - genetics | Retinal Ganglion Cells - pathology | Young Adult | Drug Dosage Calculations | Visual Acuity - drug effects | Adult | Female | cis-trans-Isomerases - metabolism | Anticarcinogenic Agents - adverse effects | Anticarcinogenic Agents - pharmacology | Child | Anticarcinogenic Agents - therapeutic use | Administration, Oral | Retinitis Pigmentosa - drug therapy | Treatment Outcome | Cerebral Cortex - diagnostic imaging | Radiography | Vitamin A - therapeutic use | cis-trans-Isomerases - genetics | Polymorphism, Single Nucleotide | Retinal Neurons - pathology | Vitamin A - adverse effects | Physiological aspects | Research | Retinoids | Lecithin | Drug therapy | Retinitis pigmentosa | Headache | Disease | Retina | Defects | Acuity | Vitamin A | Coherence length | Hemispheres | Vomiting | Functional magnetic resonance imaging | Eye (anatomy) | Safety | Visual fields | Congenital diseases | Abnormalities | Cortex (occipital) | Oral administration | Visual acuity | Nausea | Cortex (visual) | Metabolism | Acyltransferase | Patients | Hospitals | Optical Coherence Tomography | Vision | Retinal degeneration | Photoreceptors | Genetic engineering | Retinitis | Mutation | Gene therapy | Acetic acid | Structure-function relationships | Index Medicus
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/1970, Volume 54, Issue 9, p. 624
BackgroundRecent findings suggesting that Abelson helper integration site 1 (AHI1) is involved in non-syndromic retinal disease have been debated, as the... 
Journal Article
JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 09/2017, Volume 54, Issue 9, pp. 624 - 632
Background: Recent findings suggesting that Abelson helper integration site 1 (AHI1) is involved in non-syndromic retinal disease have been debated, as the... 
Journal Article