Unilateral cone-rod dysfunction and retinal thinning in a child carrying the 14484 mutation of Leber hereditary optic neuropathy

Ahmed Kassem, Rustum Karanjia, Collin McClelland, Alfredo Sadun, Michael S. Lee

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Leber hereditary optic neuropathy is a mitochondrial disorder that presents with bilateral, usually sequential, central vision loss from optic nerve damage. We report the case of an 11-year-old girl with the 14484 mutation who developed significant, unilateral visual loss secondary to retinal thinning and abnormal cone-rod responses on electroretinography, with no evidence of optic nerve damage. Patients carrying the 14484 mutation may also develop cone-rod dysfunction.

Original languageEnglish (US)
Pages (from-to)104-106
Number of pages3
JournalJournal of AAPOS
Volume23
Issue number2
DOIs
StatePublished - Apr 2019

PubMed: MeSH publication types

  • Case Reports
  • Journal Article

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