Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.

JAMA Ophthalmology
Paul YangMark E Pennesi

Abstract

The patients evaluated in this study, to our knowledge, represent the first complete clinical description of a family with an autosomal dominant inheritance pattern of retinal dystrophy associated with a novel mutation in RAX2. To clinically evaluate 4 patients and 5 unaffected family members, characterize the disease phenotype over time, and identify the associated genetic mutation. A prospective, longitudinal, observational, case-series analysis of 9 members of an affected family at the Casey Eye Institute, Oregon Health and Science University, Portland. The dates of the study were from July 31, 1992, to August 11, 2014. Clinical evaluations included eye examination, color fundus photography, autofluorescence imaging, spectral-domain optical coherence tomography, kinetic visual field testing, and electroretinography. Genetic mutation screening was performed with next-generation sequencing, and identified mutations were confirmed with Sanger sequencing. Clinical diagnosis and longitudinal characterization of retinal dystrophy and identification of genetic mutation. Six members of the family were identified as having retinal dystrophy (4 were examined, and 3 were genetically tested). Five unaffected family members were clinical...Continue Reading

Citations

Nov 14, 2016·Mechanisms of Development·Daniela P Orquera, Flávio S J de Souza
Nov 1, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Stijn Van de SompeleElfride De Baere
Mar 1, 2020·International Journal of Molecular Sciences·Yuliya Markitantova, Vladimir Simirskii
Mar 8, 2020·FEBS Open Bio·Tetsuo Kon, Takahisa Furukawa
Jan 4, 2019·Japanese Journal of Ophthalmology·Shinji UenoHiroko Terasaki
Aug 31, 2020·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Erik S DavisTom Glaser

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