Multimodal imaging and electroretinography in long-chain 3-hydroxyacyl coenzyme a dehydrogenase deficiency

James Lin, Katherine Boudreault, Stephen Tsang

Research output: Contribution to journalArticle

Abstract

Purpose: To report a case of pigmentary retinopathy in long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency using multimodal imaging techniques. Methods: Case report. Results: An 8-year-old boy with a history of failure to thrive and a diagnosis of longchain 3-hydroxyacyl coenzyme A dehydrogenase deficiency was referred for examination. Examination revealed a pigmentary retinopathy with macular atrophy; electroretinography results were consistent with a rod-cone dystrophy. Fundus autofluorescence and optical coherence tomography revealed retinal pigment epithelium atrophy. Follow-up examination findings showed increased severity of retinopathy on electroretinography, with optical coherence tomography angiography revealing enhanced visualization of choroidal vessels. Conclusion: This report reveals that long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency can be characterized as a progressive rod-cone dystrophy, with multi-modal imaging techniques used to describe this condition. In particular, optical coherence tomography angiography can be used to further characterize this condition.

Original languageEnglish (US)
Pages (from-to)S107-S112
JournalRetinal Cases and Brief Reports
Volume11
Issue number1
DOIs
StatePublished - Jan 1 2017

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Keywords

  • Chorioretinopathy
  • LCHAD deficiency
  • OCT angiography

ASJC Scopus subject areas

  • Ophthalmology

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