H. Du

Publications (2)3.95 Total impact

• Article: Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.

  H Du, S R Grob, L Zhao, J Lee, M El-Sahn, G Hughes, J Luo, K Schaf, Y Duan, J Quach, X Wei, P Shaw, D Granet, K Zhang
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  ABSTRACT: To determine the genetic basis of myotonia congenita (MC) and strabismus in a large Caucasian family. Seven patients making up four generations of a family with MC and strabismus were recruited. All patients had at least one standard ophthalmic examination, including best-corrected visual acuity, refraction, and ocular motility measurements. CLCN1 and SCN4A genes were sequenced and analysed for mutations. Five out of the seven family members were diagnosed with MC by clinical history and electromyography. Ophthalmic history and exam revealed eyelid myotonia and strabismus. All patients with MC were diagnosed with strabismus between the ages of 3 and 6 and required surgical restoration of ocular alignment. Sequencing results revealed a c. 1333G>A; p. Val445Met mutation in the SCN4A gene. There are few reports describing eyelid myotonia and strabismus in patients diagnosed with MC. We found significant ocular involvement in a family with a mutation in SCN4A. Future studies may confirm that MC with significant ocular involvement can be used to direct genetic analysis.
  Eye (London, England) 06/2012; 26(8):1039-43. · 1.97 Impact Factor
• Article: A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.

  L Zhao, S Grob, R Corey, M Krupa, J Luo, H Du, C Lee, G Hughes, J Lee, J Quach, J Zhu, P X Shaw, I Kozak, K Zhang
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  ABSTRACT: To determine the genetic basis of early onset autosomal recessive Best vitelliform macular dystrophy (arBVMD) in a family with three affected children. Clinical and family-based genetic study. Seven subjects making up a family with three children affected by Best vitelliform macular dystrophy were studied. Standard ophthalmic exam with dilated ophthalmoscopy and imaging were performed in each individual. The eleven exons of BEST1 were directly sequenced. All three affected children have the clinical characteristic features of Best vitelliform macular dystrophy: large macular vitelliform lesions, scattered vitelliform lesions along the arcades and in the peripheral retina, and an accumulation of serous retinal fluid. A novel compound heterozygous mutation in the BEST1 gene was found in the three affected individuals (L41P and I201T). The unaffected parents and children only harbor one heterozygous mutation. arBVMD can be caused by the compound heterozygous mutation L41P and I201T in the BEST1 gene.
  Eye (London, England) 03/2012; 26(6):866-71. · 1.97 Impact Factor