A mini-review: Leber congenital amaurosis: Identification of disease-causing variants and personalised therapies

J. A. Thompson, J. N. De Roach, T. L. McLaren, T. M. Lamey

Research output: Chapter in Book/Conference paperConference paperpeer-review

7 Citations (Scopus)


Leber congenital amaurosis (LCA) encompasses a group of severe inherited retinal dystrophies (IRDs) responsible for early childhood blindness. There are currently 25 genes implicated in the pathogenesis of these diseases, and identification of disease-causing variants will be required for personalised therapies. Whole exome and whole genome sequencing is informative for detecting novel disease-causing genes, whilst next-generation sequencing has excelled at detecting novel variants in known disease-causing genes. A global effort will be required to identify patient populations for early intervention. At the Australian Inherited Retinal Disease Registry and DNA Bank, we seek to identify genetic variants in individuals with IRDs in the Australian population to identify potential candidates for clinical trials, to inform clinical management of patients including reproductive options and to expand existing knowledge of IRDs. Due to the diversity of genes implicated, personalised strategies are likely to be the benchmark for treating these diseases, and a combined approach of different therapies may be optimal in treating some of these diseases.

Original languageEnglish
Title of host publicationRetinal Degenerative Diseases
Subtitle of host publicationMechanisms and Experimental Therapy
EditorsJohnn Ash, Robert Anderson, Matthew LaVail, Catherine Rickman, Joe Hollyfield, Christian Grimm
Place of PublicationNetherlands
Number of pages7
ISBN (Electronic)9783319754024
ISBN (Print)9783319754017
Publication statusPublished - 1 Jan 2018
EventXVII International Symposium on Retinal Degeneration - Kyoto, Japan
Duration: 19 Sept 201624 Sept 2016

Publication series

NameAdvances in Experimental Medicine and Biology
ISSN (Print)0065-2598
ISSN (Electronic)2214-8019


ConferenceXVII International Symposium on Retinal Degeneration


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