[
    {
        "id": "osp-12484",
        "type": "article-journal",
        "title": "Normal electro-oculography in a young Omani male with genetically confirmed best disease complicated by choroidal neovascularization",
        "author": [
            {
                "family": "Al-Abri",
                "given": "Mohamed"
            },
            {
                "family": "Al-Hinai",
                "given": "Ahmed"
            },
            {
                "family": "Al-Zuhaibi",
                "given": "Sana"
            },
            {
                "family": "Ganesh",
                "given": "Anuradha"
            },
            {
                "family": "Al Ghafri",
                "given": "Alyaqdhan"
            },
            {
                "family": "Al-Thihli",
                "given": "Khalid"
            }
        ],
        "URL": "https://omanscience.com/ar/articles/normal-electro-oculography-in-a-young-omani-male-with-genetically-confirmed-best-disease-complicated-by-choroidal-neovascularization",
        "language": "en",
        "issued": {
            "date-parts": [
                [
                    2019
                ]
            ]
        },
        "container-title": "Oman Journal of Ophthalmology",
        "volume": "12",
        "issue": "1",
        "page": "37-41",
        "DOI": "10.4103/ojo.ojo_74_2018",
        "publisher": "Medknow Publications",
        "ISSN": "0974-620X",
        "abstract": "Best vitelliform macular dystrophy (VMD) is an autosomal dominant macular dystrophy caused by heterozygous mutations in the bestrophin1 gene. Patients with this condition typically have an abnormal electrooculogram. We report a case of a 16-year-old male who presented with gradual progressive vision loss in the right eye. Ophthalmic assessment included funduscopy, optical coherence tomography (OCT), fluorescein angiography, electro-oculography, electroretinography, and genetic testing. Visual acuity was 20/500 and 20/20 in the right and left eyes, respectively. Ophthalmoscopy revealed round yellow lesions in both foveae similar to what is typically seen in Best disease. A subretinal hemorrhage surrounding the right foveal lesion was also noted. OCT demonstrated an elevated neurosensory retina with a subretinal lesion in the right macula. Fluorescein angiography of the right eye confirmed the presence of choroidal neovascularization. Genetic analysis of VMD2/BEST1 sequences confirmed the diagnosis of Best disease. However, contrary to what was expected, the patient's electro-oculography was normal. The findings of this case support a small number of previous reports demonstrating cases of Best disease with normal electro-oculography. While an abnormal electro-oculography along with the typical features of Best disease confirms the diagnosis, a normal result may not exclude the diagnosis. Genetic testing is probably the most important test for establishing the diagnosis of Best disease."
    }
]