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BMJ Open, ISSN 2044-6055, 11/2016, Volume 6, Issue 11, p. e012351
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 06/2018, Volume 59, Issue 7, pp. 3041 - 3052
PURPOSE. Mutations in the retinitis pigmentosa-1-like-1 (RP1L1) gene are the major cause of autosomal dominant occult macular dystrophy (OCMD), while recessive... 
RP1L1 gene | Retinitis pigmentosa | Occult macular dystrophy | PROTEIN | VARIANTS | OCULOCUTANEOUS ALBINISM | GENOTYPE | P-GENE | FAMILY | MULTIFOCAL ELECTRORETINOGRAPHY | occult macular dystrophy | retinitis pigmentosa | OPHTHALMOLOGY | MFERG | RETINITIS-PIGMENTOSA
Journal Article
Journal Article
Current Eye Research, ISSN 0271-3683, 10/2018, Volume 43, Issue 10, pp. 1295 - 1301
Purpose: The aim of this study is to report on the results of color vision testing in a European cohort of patients with Usher syndrome (USH). We describe the... 
visual acuity | retinal dystrophy | Usher syndrome | color vision | VISUAL-ACUITY | OPTICAL COHERENCE TOMOGRAPHY | RETINAL DISEASE | FOVEAL LESIONS | PROTEIN NETWORK | SYNDROME TYPE-III | CLARIN-1 GENE | MOLECULAR LINKS | OPHTHALMOLOGY | SYNDROME TYPE-1 | RETINITIS-PIGMENTOSA
Journal Article
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