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R. H. Henderson, K. A. Williamson, J. Kennedy, A. G. Robson, G. E. Holder, D. R. FitzPatrick, V. van Heyningen, A. T. Moore; A Rare De Novo Nonsense Mutation in Otx2 Causes Early Onset Rod-Cone Dystrophy and Pituitary Dysfunction. Invest. Ophthalmol. Vis. Sci. 2009;50(13):2311.
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To describe the clinical findings of a patient with an early onset retinal dystrophy and a novel mutation in OTX2, and contrast these findings with previously reported cases.
A panel of 142 patients with a diagnosis of Leber congenital amaurosis (LCA) or early onset retinal dystrophy (EORD) was screened by direct sequencing for mutations in OTX2. All patients had a detailed ophthalmic examination including full field electroretinography (ERG), and retinal imaging.
Only one mutation in OTX2 was identified. A novel heterozygous S138X stop mutation was identified in a 7 year old male with an infantile onset retinal dystrophy. The mutation was not present in either parent. There was a history of failure to thrive in infancy, poor feeding, and growth hormone deficiency. Poor vision and nyctalopia were present from the first year of life. Fundoscopy revealed a hyperpigmented peripapillary ring with a fine granular pigmentation of the RPE throughout the fundus. The dark adapted bright flash ERG had an electronegative waveform and photopic ERGs had a low b:a ratio. The ERGs were thus consistent with generalized rod and cone system dysfunction at a level that was primarily post-phototransduction or inner retinal. Visual function has remained stable to date.
Mutations in OTX2 have been reported in association with major developmental malformations of the eye and retinal dystrophies such as LCA. This case adds further support for a role of OTX2 in retinal development and highlights a further retinal dystrophy phenotype seen in association with mutations in OTX2.
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