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Stargardt Disease in Asian Population

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Advances in Vision Research, Volume II

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

Abstract

Stargardt disease 1 (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy, which is an autosomal recessive condition caused by pathogenic variants in the ABCA4 gene (ATP-binding cassette subfamily A member 4; MIM 601691). Clinical and molecular genetic investigations of STGD1/ABCA4 have been intensively performed over the last 10 years, and understanding the underlying pathophysiology promotes ongoing and planned human clinical therapeutic trials. We herein describe the phenotypic and genotypic characteristics of the disease, pathogenesis, therapeutic approaches, and recent findings in Asian population.

East Asian Inherited Retinal Disease Society (EAIRDs)

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Acknowledgement

We are grateful to Prof Michel Michaelides, Prof Yozo Miyake, Dr Kazushige Tsunoda, Prof Takeshi Iwata, Prof Graham E. Holder, Prof Anthony T. Moore, Prof Andrew R. Webster, Prof Anthony G. Robson, Prof Andrew Webster, Dr Rupert W Strauss, Dr Preena Tanna, Dr Kamron N. Khan, Dr Ana Fakin, Prof Hendrik P. N. Scholl, Prof Shiying Li, Prof Ruifang Sui, Prof Se Joon Woo, Kwangsic Joo, Dr Panagiotis Sergouniotis, Dr Eva Lenassi, Dr Toshihide Kurihara, and Prof Kazuo Tsubota for the data collection and their insightful comments.

Funding

Kaoru Fujinami is supported by Grant-in-Aid for Young Scientists (A) and Fund for the Promotion of Joint International Research, Fostering Joint International Research, the Ministry of Education, Culture, Sports, Science and Technology (Japan); the Japan Agency for Medical Research and Development (Japan); the Specified Disease Research Program on Intractable Diseases, the Ministry of Health Labour and Welfare (Japan); National Hospital Organization Network Research Fund (Japan) ; Foundation Fighting Blindness Career Development Award Clinical Research Fellowship Program (USA); and the Great Britain Sasakawa Foundation, Butterfield Awards for UK–Japan collaboration in medical research and public health practice (UK).

The sponsor or funding organisation had no role in the design or conduct of this research.

Conflict of Interest

Liu X, Fujinami YY, Lizhu Y, and Arno G declare that they have no conflict of interest.

Financial Disclosures

Fujinami K has received research grants from Astellas Pharma Inc., and Foundation Fighting Blindness. Fujinami K has received a speaker honorarium from Santen Pharmaceutical Co., Ltd., Astellas Pharma Inc., Japanese Ophthalmological Society, and Japanese Retinitis Pigmentosa Society.

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Authors and Affiliations

  1. Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Institute of Sensory Organs, Tokyo Medical Centre, Tokyo, Japan

    Xiao Liu, Yu (Yokokawa) Fujinami, Lizhu Yang, Gavin Arno & Kaoru Fujinami

  2. Keio University, Tokyo, Japan

    Xiao Liu, Yu (Yokokawa) Fujinami, Lizhu Yang & Kaoru Fujinami

  3. Third Military Medical University, Chongqing, China

    Xiao Liu

  4. Yokokawa Clinic, Osaka, Japan

    Yu (Yokokawa) Fujinami

  5. Peking Union Medical College Hospital, Beijing, China

    Lizhu Yang

  6. UCL Institute of Ophthalmology, London, UK

    Gavin Arno & Kaoru Fujinami

  7. Moorfields Eye Hospital, London, UK

    Gavin Arno & Kaoru Fujinami

Authors
  1. Xiao Liu
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  2. Yu (Yokokawa) Fujinami
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  3. Lizhu Yang
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  4. Gavin Arno
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  5. Kaoru Fujinami
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Correspondence to Kaoru Fujinami .

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Editors and Affiliations

  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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Liu, X., (Yokokawa) Fujinami, Y., Yang, L., Arno, G., Fujinami, K. (2019). Stargardt Disease in Asian Population. 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_23

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  • DOI: https://doi.org/10.1007/978-981-13-0884-0_23

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