MULTIMODAL IMAGING AND ELECTRORETINOGRAPHY IN LONG-CHAIN 3-HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY. (2017)

• Record Type: Journal Article
• Authors: Lin, James; Boudreault, Katherine; Tsang, Stephen
• Is Part Of: Retinal cases & brief reports. Volume 11(2017:Winter)Supplement 1
• Publication Date: 2017
• Subjects: LCHAD deficiency -- chorioretinopathy -- OCT angiography; Retina -- Diseases -- Periodicals; Retina -- Periodicals; Retinal Diseases -- Periodicals; Retina -- Case Reports; Retinal Diseases -- Case Reports; 617.7
• DOI: 10.1097/ICB.0000000000000428
• Languages: English
• ISSNs: 1935-1089

Abstract

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. Abstract : The authors present a case of an 8-year-old boy with rod–cone dystrophy secondary to long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency, characterized using electroretinography and imaging modalities such as optical coherence tomography angiography.