Abstract
BackgroundTo describe the clinical and multimodal imaging findings of a Brazilian family with Best vitelliform macular dystrophy.MethodsA retrospective chart review of a Brazilian family was conducted and complementary fundus images (color photography, autofluorescence, fluorescein angiography and optical coherence tomography) were analyzed.ResultsSeven patients had typical macular lesions at different stages of Best vitelliform macular dystrophy. Electrooculography was performed in two of them and showed abnormal Arden ratio. The pedigree strongly suggests an autosomal dominant inheritance. Low visual acuity was mainly associated with advanced age, retinal pigment epithelium atrophy, and photoreceptors damage. However, yellow subretinal deposits were evidenced in patients with better visual acuity.ConclusionWe present the largest case series of a Brazilian family with Best vitelliform macular dystrophy. Multimodal imaging analysis is important to determine retinal abnormalities. Retinal pigment epithelium atrophy and loss of photoreceptors outer segments seem to be a late but important finding related to severe visual acuity impairment.
Highlights
To describe the clinical and multimodal imaging findings of a Brazilian family with Best vitelliform macular dystrophy
FAF showed a small rounded subfoveal hyperautofluorescent material, surrounded by hypoautofluorescence corresponding to retinal pigment epithelium (RPE) atrophy and a circular hyperautofluorescence ring in both eyes (Fig. 2c, d)
We present a two-generation family of seven affected Brazilian individuals with Best vitelliform macular dystrophy (BVMD)
Summary
To describe the clinical and multimodal imaging findings of a Brazilian family with Best vitelliform macular dystrophy. Ocular lesions are associated with mutations in BEST1 (VMD2) gene, located on chromosome 11q13 [1]. Bestrophin-1 is a basolateral transmembrane protein of the retinal pigment epithelium (RPE), encoded by BEST1 gene, and function as an intracellular calcium-activated chloride channel and an anion channel. BEST1 mutation alters ions and fluids transport in RPE, RPE microvilli and RPE-photoreceptor outer segment (POS) interaction/adhesiveness. We report the multimodal fundus imaging of fourteen eyes with different stages of BVMD. To our knowledge, this is the largest case series of a Brazilian family with Best vitelliform macular dystrophy
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