%0 Journal Article
%T Normal electro-oculography in a young Omani male with genetically confirmed best disease complicated by choroidal neovascularization
%A Ahmed Al-Hinai
%A Alyaqdhan Al Ghafri
%A Anuradha Ganesh
%A Khalid Al-Thihli
%A Mohamed Al-Abri
%A Sana Al Zuhaibi
%J Archive of "Oman Journal of Ophthalmology".
%D 2019
%R 10.4103/ojo.OJO_74_2018
%X 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
%K Anti-vascular endothelial growth factor
%K best disease
%K choroidal neovascularization
%K electrooculography
%K vitelliform macular dystrophy
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380146/