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Literature DB >> 27652820

MULTIMODAL IMAGING AND ELECTRORETINOGRAPHY IN LONG-CHAIN 3-HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY.

James Lin¹, Katherine Boudreault, Stephen Tsang.

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 long-chain 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.

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2017 PMID： 27652820 PMCID： PMC5179284 DOI： 10.1097/ICB.0000000000000428

Source DB: PubMed Journal: Retin Cases Brief Rep ISSN： 1935-1089

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