Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Leber congenital amaurosis 14 is an autosomal recessive disorder caused by mutations of the LRAT gene.
| 1. |
Gu SM et al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 
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| 2. |
den Hollander AI et al. (2007) Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
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| 3. |
Thompson DA et al. (2001) Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.
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| 4. |
Sénéchal A et al. (2006) Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.
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| 5. |
OMIM.ORG article Omim 613341
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