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Clinical Genetics of Vitelliform Macular Dystrophy: An Asian Perspective

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Advances in Vision Research, Volume II

Part of the book series: Essentials in Ophthalmology ((ESSENTIALS))

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Abstract

Vitelliform macular dystrophy (VMD) is a group of macular dystrophy characterized by the subretinal accumulation of yellow yolk-like materials which predominantly affect the macula. Best vitelliform macular dystrophy is among the most common autosomal dominant (AD) retinal dystrophy, caused by mutations in the BEST1 gene. Since first identification of BEST1 gene in 1998, molecular biology and pathophysiology of BEST1 gene and vitelliform macular dystrophy were studied. Recent advances in genetic analysis have described over 200 different human BEST1 mutations to date, associated with a broad spectrum of ocular diseases, called bestrophinopathy. However, the genotype-phenotype correlation in VMD is largely unexplored. Genetic test is clinically important in the diagnosis of VMD because the clinical features of VMD are similar to those of exudative age-related macular degeneration (AMD), choroidal neovascularization (CNV), or central serous chorioretinopathy (CSC). Here, in addition to describing the clinical characteristics of VMD, this chapter focuses on the clinical genetics of BEST1 gene in VMD.

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Sung Wook Park, Chang ki Yoon, Dae Joong Ma, Un Chul Park, and Hyeong Gon Yu declare that they have no conflict of interest.

All procedures followed were in accordance with the ethical standards of the responsible committee on institutional review board and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

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Authors and Affiliations

  1. Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Republic of Korea

    Sung Wook Park, Dae Joong Ma, Un Chul Park & Hyeong Gon Yu

  2. Department of Ophthalmology, Seoul National University Hospital, Seoul, Republic of Korea

    Sung Wook Park, Dae Joong Ma, Un Chul Park & Hyeong Gon Yu

  3. Retinal Degeneration Research Laboratory, Biomedical Research Institute, Seoul National University Hospital, Seoul, Republic of Korea

    Sung Wook Park, Dae Joong Ma, Un Chul Park & Hyeong Gon Yu

  4. Department of Ophthalmology, Inje University College of Medicine, Busan, Republic of Korea

    Chang Ki Yoon

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  1. National Eye Institute, National Institutes of Health, Bethesda, MD, USA

    Gyan Prakash

  2. National Institute of Sensory Organs Tokyo Medical Center, National Hospital Organization, Tokyo, Japan

    Takeshi Iwata

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Park, S.W., Yoon, C.K., Ma, D.J., Park, U.C., Yu, H.G. (2019). Clinical Genetics of Vitelliform Macular Dystrophy: An Asian Perspective. In: Prakash, G., Iwata, T. (eds) Advances in Vision Research, Volume II. Essentials in Ophthalmology. Springer, Singapore. https://doi.org/10.1007/978-981-13-0884-0_21

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