July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Mutation Screening of OPA1 in a cohort Chinese patients with Suspected Autosomal Dominant Optic Atrophy
Author Affiliations & Notes
  • YUE XIE
    Beijing institute of Ophthalmology, Beijing tongren hospital, Beijing, Beijing, China
  • Ting Xiao
    Beijing institute of Ophthalmology, Beijing tongren hospital, Beijing, Beijing, China
  • Ke Xu
    Beijing institute of Ophthalmology, Beijing tongren hospital, Beijing, Beijing, China
  • Xiaohui Zhang
    Beijing institute of Ophthalmology, Beijing tongren hospital, Beijing, Beijing, China
  • Yang Li
    Beijing institute of Ophthalmology, Beijing tongren hospital, Beijing, Beijing, China
  • Footnotes
    Commercial Relationships   YUE XIE, None; Ting Xiao, None; Ke Xu, None; Xiaohui Zhang, None; Yang Li, None
  • Footnotes
    Support  China (81570886)
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 414. doi:
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    • Get Citation

      YUE XIE, Ting Xiao, Ke Xu, Xiaohui Zhang, Yang Li; Mutation Screening of OPA1 in a cohort Chinese patients with Suspected Autosomal Dominant Optic Atrophy. Invest. Ophthalmol. Vis. Sci. 2019;60(9):414.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Autosomal dominant optic atrophy (DOA) is a common hereditary optic atrophy and majority of DOA patients are caused by mutations of OPA1 gene. The purpose of this study was to establish the mutation spectrum in a cohort of Chinese patients with suspected DOA and describe the clinical characteristics of patients carrying OPA1 mutations.

Methods : A total of 656 probands with bilateral optic atrophy, who were not carrying 16 primary mitochondrial DNA mutations causing Leber hereditary optic neuropathy (LHON) in our previous screening analysis, were recruited. Each probands underwent detailed ophthalmic examinations. All 30 coding exons and exon-intron boundaries of the OPA1 gene were screened by PCR-based DNA sequencing. In silico programs were used to analyze the pathogenicity of all the variants. A large genomic DNA arrangement was detected by multiplex ligation probe amplification (MLPA) assay.

Results : We found pathogenic or probably pathogenic mutations in 171 unrelated patients, obtaining a detection rate 26% (171/656). Overall, 122 distinct heterozygous OPA1 mutations were identified and 65 were novel. These mutations contained 41 (34%) missense, 22 (18%) nonsense, 21 (17%) splicing effect, 29 (24%) small deletion/insertion mutations, and 9 (7%) large genomic arrangement. The most common mutation was c.2708_2711del TTAG in exon 27 identified in 14 unrelated patients. Of the 171 probands, 75 probands had a family history and 96 were sporadic. Co-segregation analysis revealed that 15 probands harbor a de novo mutation. The average onset age of visual defect was 8.46±7.93 years (range from 1-57 years) and the mean logMAR visual acuity for the probands carrying OPA1 mutations was 0.81±0.43 (range from 0 to 3). Compared to the probands with the truncated mutations, the patients with the missense mutations have a poorer visual acuity (0.95±0.55).

Conclusions : Our finding expanded the spectrum of OPA1 mutations. Our results indicate the importance of investigating OPA1 mutations in patients with suspected hereditary optic neuropathy, even in absence of a family history of the disease.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

 

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