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Turk Oftalmoloiji Dergisi, ISSN 1300-0659, 04/2016, Volume 46, Issue 2, pp. 91 - 94
Occult macular dystrophy is an inherited macular dystrophy characterized by a progressive decline of bilateral visual acuity with normal fundus appearance,... 
Microperimetry | Multifocal electroretinogram | Optical coherence tomography | Occult macular dystrophy | microperimetry | multifocal electroretinogram | optical coherence tomography | Case Report
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
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 05/2019, Volume 40, Issue 3, pp. 282 - 285
Background: Spinocerebellar ataxia Type 7 (SCA7) is an autosomal dominant, progressive neurodegenerative disorder, primarily characterized by cerebellar... 
SCA7 | retinal degeneration | occult macular dystrophy | Spinocerebellar ataxia type 7 | GENOTYPE | GENETICS & HEREDITY | PHENOTYPE | OPHTHALMOLOGY | FEATURES
Journal Article
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
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 2007, Volume 143, Issue 3, pp. 516 - 518
Journal Article
Clinical Ophthalmology, ISSN 1177-5467, 2013, Volume 7, pp. 859 - 864
To investigate changes in cone photoreceptors with adaptive optics (AO) fundus imaging and spectral domain optical coherence tomography (SD-OCT) in a case of... 
Adaptive optics | Cone analysis | Optical coherence tomography | Occult macular dystrophy | Cone photoreceptor | Case studies | Usage | Care and treatment | Physiological aspects | Retinal degeneration | Photoreceptors | Diagnosis | Optical tomography | adaptive optics | cone photoreceptor | occult macular dystrophy | optical coherence tomography | cone analysis | Case Report
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 02/2011, Volume 89, Issue 1, pp. e52 - e56
Journal Article
Documenta Ophthalmologica, ISSN 0012-4486, 8/2014, Volume 129, Issue 1, pp. 49 - 56
Journal Article
Retinal Cases and Brief Reports, ISSN 1935-1089, 2017, Volume 11, pp. S65 - S67
To report a case of occult macular dystrophy associated with mutations in the RP1L1 and KCNV2 genes. Case report. Multimodal retinal imaging and the results of... 
Rod dystrophy | Cone dystrophy | Occult macular dystrophy | Genetic Predisposition to Disease | Macular Degeneration - genetics | Humans | Adult | Male | Eye Proteins - genetics | Mutation | Potassium Channels, Voltage-Gated - genetics | Vision Disorders - etiology | Index Medicus
Journal Article
Oman Journal of Ophthalmology, ISSN 0974-620X, 02/2016, Volume 9, Issue 1, pp. 55 - 58
Two siblings aged 9 and 15 years with unexplained visual loss had normal pupillary reactions, unremarkable anterior and posterior segment, normal fluorescein... 
Inner and outer photoreceptor segment junction | occult macular dystrophy | multifocal electroretinogram | spectral domain optical coherence tomogram | Case studies | Care and treatment | Familial diseases | Diagnosis | Children | Retinal diseases | Diseases | Conflicts of interest | Automation | Patients | Siblings | Case Report
Journal Article