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Stargardt Macular Dystrophy

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Inherited Retinal Disease

Abstract

Stargardt disease 1 (STGD1; MIM 248200), which is the most prevalent inherited macular dystrophy, is an autosomal recessive condition caused by pathogenic variants in the ABCA4 gene (ATP-binding cassette subfamily A member 4; MIM 601691). Over the last two decades, clinical and molecular genetic studies of STGD1/ABCA4 have been intensively conducted worldwide and an understanding of the pathophysiology promotes clinical therapeutic trials. In this review, we describe clinical manifestations, genetic characteristics, pathophysiology, and treatment approaches.

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Acknowledgements

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

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Authors and Affiliations

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

    Kaoru Fujinami, Yu Fujinami-Yokokawa, Lizhu Yang, Xiao Liu, Gavin Arno & Nikolas Pontikos

  2. Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan

    Kaoru Fujinami, Lizhu Yang & Xiao Liu

  3. UCL Institute of Ophthalmology, London, UK

    Kaoru Fujinami, Yu Fujinami-Yokokawa, Gavin Arno & Nikolas Pontikos

  4. Moorfields Eye Hospital, London, UK

    Kaoru Fujinami, Gavin Arno & Nikolas Pontikos

  5. Graduate School of Health Management, Keio University, Tokyo, Japan

    Yu Fujinami-Yokokawa

  6. Division of Public Health, Yokokawa Clinic, Suita, Osaka, Japan

    Yu Fujinami-Yokokawa

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  1. Kaoru Fujinami
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East Asia Inherited Retinal Disease Society (EAIRDs) Study Group

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Correspondence to Kaoru Fujinami .

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  1. Department of Ophthalmology, Seoul National University Hospital, Seoul, Korea (Republic of)

    Hyeong-Gon Yu

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Kaoru Fujinami is supported by grants from Grant-in-Aid for Young Scientists (A) of the Ministry of Education, Culture, Sports, Science and Technology, Japan (16H06269), grants from Grant-in-Aid for Scientists to support international collaborative studies of the Ministry of Education, Culture, Sports, Science and Technology, Japan (16KK01930002), grants from National Hospital Organization Network Research Fund (H30-NHO-Sensory Organs-03), grants from FOUNDATION FIGHTING BLINDNESS ALAN LATIES CAREER DEVELOPMENT PROGRAM (CF-CL-0416-0696-UCL), grants from Health Labour Sciences Research Grant, The Ministry of Health Labour and Welfare (201711107A), and grants from Great Britain Sasakawa Foundation Butterfield Awards.

Yu Fujinami-Yokokawa was supported by grants from Grant-in-Aid for Young Scientists of the Ministry of Education, Culture, Sports, Science and Technology, Japan (18K16943).

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

Conflict of Interest Disclosures

All authors have completed Disclosure of Potential Conflicts of Interest. Individual investigators who participate in the sponsored project(s) are not directly compensated by the sponsor but may receive salary or other support from the institution to support their effort on the project(s).

Kaoru Fujinami is a paid consultant of Astellas Pharma Inc, Kubota Pharmaceutical Holdings Co., Ltd, Acucela Inc., Janssen Pharm, Sanofi Genzyme, and NightstaRx Limited. Kaoru Fujinami reports personal fees from Astellas Pharma Inc, personal fees from Kubota Pharmaceutical Holdings Co., Ltd., personal fees from Acucela Inc., personal fees from NightstaRx Limited., personal fees from SANTEN Company Limited, personal fees from Foundation Fighting Blindness, personal fees from Foundation Fighting Blindness Clinical Research Institute, personal fees from Japanese Ophthalmology Society, personal fees from Japan Retinitis Pigmentosa Society. Laboratory of Visual Physiology, Division for Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Tokyo, Japan is supported by grants from Astellas Pharma Inc (NCT03281005), outside the submitted work.

Yu Fujinami-Yokokawa was supported by grants from Grant-in-Aid for Young Scientists of the Ministry of Education, Culture, Sports, Science and Technology, Japan (18K16943).

Role of the Funder/Sponsor

The funding sources had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.

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Fujinami, K. et al. (2022). Stargardt Macular Dystrophy. In: Yu, HG. (eds) Inherited Retinal Disease. Springer, Singapore. https://doi.org/10.1007/978-981-16-7337-5_9

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  • DOI: https://doi.org/10.1007/978-981-16-7337-5_9

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