Abstract
BackgroundTo report two cases of atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy.Case presentationTwo patients with incidentally discovered abnormalities of the retina without specific symptoms were referred to our hospital for consultation. Bilateral macula atrophic lesions were observed and optical coherence tomography revealed serous retinal detachment in the macula. Fluorescein angiography showed multiple leakages around the central hypofluorescent area and indocyanine green angiography showed partially dilated choroidal vessels. Fundus autofluorescence (FAF) showed a decreasing pattern of autofluorescence in the subretinal fluid area, and increasing autofluorescence at the border of the serous retinal detachment. Both patients were diagnosed with chronic central serous chorioretinopathy. Photodynamic therapy and intravitreal bevacizumab injection were administered for engorged choroidal vessels during follow-up, but neither patient showed improvement in symptoms or ophthalmologic findings. Based on re-evaluation by fundus photography, optical coherence tomography, fluorescein angiography, and comparison of the results of FAF with the first visit, vitelliform macular dystrophy was suspected and a definite diagnosis was made by electrooculography and genetic testing.ConclusionIn patients with continuous serous retinal detachment without response to photodynamic therapy or intravitreal bevacizumab injection, careful fundus exam and FAF can be used to diagnose atypical vitelliform macular dystrophy.
Highlights
To report two cases of atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy.Case presentation: Two patients with incidentally discovered abnormalities of the retina without specific symptoms were referred to our hospital for consultation
We report two cases of atypical Vitelliform macular dystrophy (VMD) in patients who were misdiagnosed with chronic central serous chorioretinopathy (CSC) and did not respond to either photodynamic therapy or intravitreal bevacizumab injection
Optical coherence tomography revealed a wide range of serous retinal detachments in both eyes (Figure 3)
Summary
Vitelliform macular dystrophy (VMD) is an autosomaldominant disease that can cause a gene mutation of bestrophin-1 (Best-1). Optical coherence tomography revealed a wide range of serous retinal detachments in both eyes (Figure 3) Fluorescein angiography showed both hypofluorescence of foveal lesions and ring-like hyperfluorescence in surrounding areas. Bilateral chronic CSC was suspected and photodynamic therapy was applied during follow-up to the areas of dilated choroidal vessels based on indocyanine green angiography, but the serous retinal detachment did not improve. These two cases of suspected chronic CSC showed continuous serous retinal detachment even after the photodynamic therapy over 3 years, multiple leakages in fluorescein angiography, and hyperlucent choroidal vessels in indocyanine green angiography The records of these two cases were reviewed in more detail. Genetic examination was conducted and both patients were VMD2 gene-positive, and the diagnosis of VMD was confirmed
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