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Leber Congenital Amaurosis/Early-Onset Retinal Dystrophy in Japanese Population

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Advances in Vision Research, Volume I

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

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Abstract

The purpose of this chapter is to summarize the evidence on the correlations between the clinical features of Leber congenital amaurosis/early-onset retinal dystrophy (LCA/EORD) and the causative genes and to present the clinical characteristics of representative cases for each causative gene. Twenty-five genes are known causes of LCA/EORD: GUCY2D, RPE65, SPATA7, AIPL1, LCA5, RPGRIP1, CRX, CRB1, NMNAT1, CEP290, IMPDH1, RD3, RDH12, LRAT, TULP1, KCNJ13, GDF6, PRPH2, OTX2, IQCB1, IFT140, PNPLA6, PEX1, CABP4, and MERTK. Among these, the genes found in Japanese patients are GUCY2D, RPE65, RPGRIP1, CRX, CRB1, NMNAT1, IMPDH1, and RDH12. Most mutations discovered in Japanese patients have not been reported in other ethnic populations. Moreover, recent publications on genetic investigations in large cohort of Chinese patients with LCA/EORD revealed genetic characteristics different from those of the European/American populations. These results suggest that further genetic investigations on Japanese/Asian populations are needed.

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Acknowledgments

The author, Kazuki Kuniyoshi, expresses gratitude to Takaaki Hayashi, MD; Mineo Kondo, MD; Satoshi Katagiri, MD; Hiroshi Tsuneoka, MD; Takuro Fujimaki, MD; Takahide Suzuki, MD; Akira Murakami, MD; Makoto Nakamura, MD; Yoshihiro Hotta, MD; and Katsuhiro Hosono, MD, for providing clinical data on Japanese patients with LCA/EORD including their fundus photographs (Figs. 13.2, 13.3 and 13.4). The author thanks Professor Emeritus Duco I. Hamasaki of the Bascom Palmer Eye Institute of the University of Miami for critical discussion and final manuscript editing. This work was supported in part by grant to Takeshi Iwata, MD, from the Japan Agency for Medical Research and Development (Practical Research Project for Rare/Intractable Diseases, 26310601).

Conflict of Interest

The authors Kazuki Kuniyoshi and Yoshikazu Shimomura declare of no conflict of interest for this work.

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  1. Department of Ophthalmology, Kindai University Faculty of Medicine, 377-2 Ohno-Higashi, Osaka-Sayama, Osaka, 589-8511, Japan

    Kazuki Kuniyoshi & Yoshikazu Shimomura

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  1. Kazuki Kuniyoshi
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  2. Yoshikazu Shimomura
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Correspondence to Kazuki Kuniyoshi .

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Editors and Affiliations

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

    Gyan Prakash

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

    Takeshi Iwata

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Kuniyoshi, K., Shimomura, Y. (2017). Leber Congenital Amaurosis/Early-Onset Retinal Dystrophy in Japanese Population. In: Prakash, G., Iwata, T. (eds) Advances in Vision Research, Volume I. Essentials in Ophthalmology. Springer, Tokyo. https://doi.org/10.1007/978-4-431-56511-6_13

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