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Frontiers in Genetics, ISSN 1664-8021, 08/2017, Volume 8, pp. 107 - 107
Purpose: To show early, rapid and accurate molecular diagnosis of occult macular dystrophy (OMD) in a four-generation Chinese family with inherited macular... 
RP1L1 | Molecular diagnosis | Gene mutations | Occult macular dystrophy | ABCA4 | RP1L1 GENE | PRECISION MEDICINE | RETINAL DEGENERATIONS | ABCA4 GENE | molecular diagnosis | DOMINANT RETINITIS-PIGMENTOSA | MULTIFOCAL ELECTRORETINOGRAPHY | occult macular dystrophy | CONE-ROD DYSTROPHY | GENETICS & HEREDITY | STARGARDT DISEASE | gene mutations | MUTATIONS | PROGRESSION
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 | Index Medicus
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 12/2017, Volume 58, Issue 14, pp. 6020 - 6029
PURPOSE. To report the clinical characteristics of asymptomatic cases with RP1L1 gene mutations in four families with occult macular dystrophy (OMD). METHODS.... 
RP1L1 | OCT | Asymptomatic | Occult macular dystrophy | Foveal sparing | VARIANTS | asymptomatic | FUNDUS AUTOFLUORESCENCE | IDENTIFICATION | foveal sparing | PENETRANCE | occult macular dystrophy | DISEASE | FREQUENCY | OPHTHALMOLOGY | SPECTRUM | CONE | RETINITIS-PIGMENTOSA | GEOGRAPHIC ATROPHY | Index Medicus
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 11/2018, Volume 195, pp. 16 - 25
To describe a distinct phenotypic outcome of outer retinal degeneration in a cohort of genetically confirmed patients with recessive Stargardt disease (STGD1).... 
ALPHA-SUBUNIT | OPTICAL COHERENCE TOMOGRAPHY | RECESSIVE RETINITIS-PIGMENTOSA | CHOROIDEREMIA CHM | OPHTHALMOLOGY | TERM-FOLLOW-UP | GENE ABCR | NATURAL-HISTORY | RETINAL-PIGMENT EPITHELIUM | OCCULT MACULAR DYSTROPHY | RP1L1 VARIANTS | Fluorescence | Medicine, Experimental | Medical research | Development and progression | Genetic disorders | Cells | Medical imaging | Mutation | Patients | Age
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 09/2016, Volume 57, Issue 11, pp. 4837 - 4846
Journal Article
by Hu, YS and Song, H and Li, Y and Xiao, ZY and Li, T
INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, ISSN 2222-3959, 06/2019, Volume 12, Issue 6, pp. 915 - 923
AIM: To detect the pathogenetic mutations responsible for nonsyndromic autosomal recessive retinitis pigmentosa (RP) in 2 nonconsanguineous Chinese families.... 
DIAGNOSIS | nonsyndromic | GUIDELINES | PHENOTYPE | mutation | DISEASES | FAM161A | retinitis pigmentosa | OPHTHALMOLOGY | INHERITANCE | whole-exome sequencing | novel | NONSENSE MUTATION | OCCULT MACULAR DYSTROPHY | RP1L1 VARIANTS | REVEALS
Journal Article
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 07/2016, Volume 17, Issue 1, pp. 47 - 47
Background: Macular corneal dystrophy (MCD) is a rare autosomal recessive disorder that is characterized by progressive corneal opacity that starts in early... 
CHST6 | Whole exome sequencing | Macular corneal dystrophy | African | VARIANTS | DISTINCT MUTATIONS | MISSENSE MUTATIONS | PREDICTION | RP1L1 | CARBOHYDRATE SULFOTRANSFERASE GENE | DISEASE | GENETICS & HEREDITY | FRAMEWORK | DNA-SEQUENCING DATA | KERATAN SULFATE | Gene mutations | Blindness | Physiological aspects | Corneal diseases | Genetic aspects | Research | Risk factors | Index Medicus
Journal Article
Documenta Ophthalmologica, ISSN 0012-4486, 8/2014, Volume 129, Issue 1, pp. 49 - 56
Journal Article