The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.

@article{Weleber2011ThePO,
  title={The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.},
  author={Richard G. Weleber and Michel Michaelides and Karmen M Trzupek and Niamh B Stover and Edwin M. Stone},
  journal={Investigative ophthalmology & visual science},
  year={2011},
  volume={52 1},
  pages={292-302}
}
PURPOSE To describe in detail the characteristic clinical phenotype and electrophysiological features of Severe Early Childhood Onset Retinal Dystrophy (SECORD) caused by mutation of RPE65. METHODS Ophthalmological examination, color fundus photography, visual field testing, detailed electrophysiological assessment, and screening of RPE65 were undertaken in five subjects. Selected patients also had spectral domain optical coherence tomography. RESULTS All five patients had life-long… CONTINUE READING

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Leber congenital amaurosis. GeneReviews. Available at: http://www.ncbi.nlm.nih.gov/bookshelf/ br.fcgi?book gene&part lca

RG Weleber, P Francis, K. Trzupek
Accessed May 22, • 2010
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