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Article

Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Dec 2009

Chung Daniel C, Traboulsi Elias I

Abstract excerpt

Leber congenital amaurosis comprises a group of early onset childhood retinal dystrophies, characterized by vision loss, nystagmus, and severe retinal dysfunction. To date, 15 causative genes have been identified that account for the heterogeneous presentation and clinical course. Knowledge of ke...

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Identifiers

PMID: 20006823
DOI: 10.1016/j.jaapos.2009.10.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20006823-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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