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See Latest ArticlesA rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction
Molecular Vision, 11/25/09
Henderson RH et al. – Mutations in OTX2 have been reported in association with major developmental malformations of the eye, with retinal dystrophies such as LCA, and with pituitary dysfunction and seizure activity in some cases. This case adds further support for a role of OTX2 both in retinal development and pituitary function, and highlights a novel retinal dystrophy phenotype seen in association with mutations in OTX2.
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