Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview

Neruban Kumaran; Mark E Pennesi; Paul Yang; Karmen M Trzupek; Catherine Schlechter; Anthony T Moore; Richard G Weleber; Michel Michaelides

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview

Review

In: GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.

2018 Oct 4 [updated 2023 Mar 23].

Authors

Neruban Kumaran¹, Mark E Pennesi², Paul Yang², Karmen M Trzupek³, Catherine Schlechter⁴, Anthony T Moore^{5

6}, Richard G Weleber⁴, Michel Michaelides¹

Book Editors

Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya

Affiliations

¹ UCL Institute of Ophthalmology, University College London, Moorfields Eye Hospital, London, United Kingdom
² Casey Eye Institute, Oregon Health Sciences University, Portland, Oregon
³ InformedDNA, St Petersburg, Florida
⁴ Ophthalmic Genetics Clinic, Casey Eye Institute, Oregon Health Sciences University, Portland, Oregon
⁵ University of California San Francisco, San Francisco, California
⁶ UCL Institute of Ophthalmology, University College London, London, United Kingdom

PMID: 30285347
Bookshelf ID: NBK531510

Excerpt

The purpose of this overview is to increase the clinician's awareness of Leber congenital amaurosis (LCA) / early-onset severe retinal dystrophy (EOSRD) and its clinical phenotypes, genetic causes, and management. The following are the goals of this overview.

Goal 1: Describe the clinical characteristics of LCA/EOSRD.

Goal 2: Review the genetic causes of LCA/EOSRD.

Goal 3: Provide an evaluation strategy to identify the genetic cause of LCA/EOSRD in a proband (when possible).

Goal 4: Inform (when possible) medical management of LCA/EOSRD based on genetic cause.

Goal 5: Inform genetic counseling for LCA/EOSRD.

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Publication types

Review