Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Leber congenital amaurosis 12 is an autosomal recessive disorder caused by mutations of the RD3 gene.
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Friedman JS et al. (2006) Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. 
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| 2. |
Preising MN et al. (2012) Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.
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| 3. |
Perrault I et al. (2013) Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.
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| 4. |
OMIM.ORG article Omim 610612
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