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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 09/2010, Volume 51, Issue 9, pp. 4771 - 4780
PURPOSE. To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in... 
ABNORMAL FUNDUS AUTOFLUORESCENCE | ELECTRORETINOGRAPHY | CHROMOSOME-4 | GENE | OPHTHALMOLOGY | FRAMESHIFT MUTATION | PHENOTYPES | UPDATE | ISCEV STANDARD | RETINITIS-PIGMENTOSA | PHOTORECEPTOR DEGENERATION
Journal Article
Retina (Philadelphia, Pa.), ISSN 0275-004X, 12/2018, Volume 38, Issue 12, pp. 2401 - 2414
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 07/2012, Volume 53, Issue 8, pp. 4754 - 4764
Journal Article
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, ISSN 0275-004X, 12/2016, Volume 36, Issue 12, pp. S147 - S158
Purpose: Using multiple imaging modalities, we evaluated the changes in photoreceptor cells and retinal pigment epithelium (RPE) that are associated with bone... 
photoreceptor cells | retinal degeneration | melanin pigment | MELANIN | RETINAL HISTOPATHOLOGY | HYPERAUTOFLUORESCENT RING | ABNORMAL FUNDUS AUTOFLUORESCENCE | GENE | VISUAL FUNCTION | MUTATION | retinitis pigmentosa | STARGARDT DISEASE | OPHTHALMOLOGY | retinal pigment epithelium
Journal Article
Journal Article