CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1

Jesse D. Sengillo, Winston Lee, Mathieu F. Bakhoum, Galaxy Y. Cho, John P.W. Chiang, Stephen H. Tsang

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

PURPOSE: To report a novel synonymous mutation in CHM and the associated phenotype in an affected man and carrier mother.

METHODS: Case report.

RESULTS: A 34-year-old man with a long history of progressive night blindness and visual field constriction was diagnosed with choroideremia based on ocular examination and multimodal retinal imaging. Extensive chorioretinal degeneration was noted on spectral domain optical coherence tomography and fundus autofluorescence imaging. Candidate CHM gene sequencing revealed a hemizygous c.1359C>T, p.(S453S) variant. This variant was heterozygous in the mother of the proband who exhibited the classic carrier phenotype of choroideremia on fundus autofluorescence imaging.

CONCLUSION: A novel c.1359C>T, p.(S453S) variant in CHM is the first-identified synonymous mutation associated with disease manifestation in an affected man and carrier phenotype in a heterozygous mother.

Original languageEnglish (US)
Pages (from-to)S67-S71
JournalRetinal cases & brief reports
Volume12
DOIs
StatePublished - Sep 1 2018

ASJC Scopus subject areas

  • Ophthalmology

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    Sengillo, J. D., Lee, W., Bakhoum, M. F., Cho, G. Y., Chiang, J. P. W., & Tsang, S. H. (2018). CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1. Retinal cases & brief reports, 12, S67-S71. https://doi.org/10.1097/ICB.0000000000000647