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Journal of Medical Genetics, ISSN 0022-2593, 06/2017, Volume 54, Issue 6, pp. 404 - 412
Background Variation in the ABCA4 gene is causal for, or associated with, a wide range of phenotypes from early onset Mendelian retinal dystrophies to... 
RETINOPATHIES | VARIANTS | CONE-ROD DYSTROPHY | GENETICS & HEREDITY | FUNCTIONAL-ANALYSIS | GENE ABCR | PHENOTYPES | MUTATIONS | RETINITIS-PIGMENTOSA | ASSOCIATION | STARGARDT-DISEASE | Allelomorphism | Macular degeneration | Retinal degeneration | Research | Retinal diseases | Analysis | Index Medicus
Journal Article
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 12/2017, Volume 135, Issue 12, p. 1330
Importance Acute zonal occult outer retinopathy (AZOOR) remains a challenging diagnosis. Early recognition of the disease depends on advances in imaging... 
Retinopathy | Pathogenesis | Retina | Minority & ethnic groups | Wavelength | Latency | Electroretinograms | Eye | Genotype & phenotype | Ethnicity | Phenotyping | Tomography | Eye diseases | Ophthalmology
Journal Article
ISSN 1750-1172, 2017
Background: Autoimmune retinopathy (AIR) is a rare but potentially blinding condition that is often underdiagnosed. Common features in AIR presentation include... 
Electroretinography | Autoimmune diseases--Treatment | Retinal degeneration | Rituximab | Ophthalmology
Journal Article
Ophthalmology, ISSN 0161-6420, 01/2018, Volume 125, Issue 1, pp. 89 - 99
To characterize patients affected by a uniquely severe, rapid-onset chorioretinopathy (ROC) phenotype of ABCA4 disease. Comparative cohort study. Sixteen... 
SHORT-WAVELENGTH AUTOFLUORESCENCE | CONE-ROD DYSTROPHY | QUANTITATIVE FUNDUS AUTOFLUORESCENCE | STARGARDT MACULAR DYSTROPHY | OPTICAL COHERENCE TOMOGRAPHY | NEAR-INFRARED AUTOFLUORESCENCE | RECESSIVE RETINITIS-PIGMENTOSA | GENOTYPE CORRELATIONS | OPHTHALMOLOGY | GENE ABCR | MUTATIONS | Index Medicus
Journal Article