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Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy

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Inherited Retinal Disease

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Abstract

Leber congenital amaurosis/early-onset severe retinal dystrophy (LCA/EOSRD) is a genetically and phenotypically heterogeneous group of inherited retinal diseases with widely overlapping features. Herein we present in a comprehensive and concise manner the clinical features, molecular genetics, treatment principles, novel treatment methods, and retinal imaging findings of LCA/EOSRD, emphasizing in some of the most common genotypes: GUCY2D, CEP290, CRB1, RDH12, RPE65, TULP1, AIPL1, and NMNAT1.

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Authors and Affiliations

  1. UCL Institute of Ophthalmology, University College London, London, UK

    Michalis Georgiou & Michel Michaelides

  2. Moorfields Eye Hospital NHS Foundation Trust, London, UK

    Michalis Georgiou & Michel Michaelides

Authors
  1. Michalis Georgiou
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  2. Michel Michaelides
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Correspondence to Michel Michaelides .

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Editors and Affiliations

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

    Hyeong-Gon Yu

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The authors declare that there is no conflict of interest.

Contributors

MG reviewed the literature, drafted the chapter and provided critical revision. MM conceived, supervised, and revised the chapter. Manuscript writing: All authors. Final approval of manuscript: All authors

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The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

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Georgiou, M., Michaelides, M. (2022). Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy. In: Yu, HG. (eds) Inherited Retinal Disease. Springer, Singapore. https://doi.org/10.1007/978-981-16-7337-5_6

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  • DOI: https://doi.org/10.1007/978-981-16-7337-5_6

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  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-16-7336-8

  • Online ISBN: 978-981-16-7337-5

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