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Updated: Mar 14, 2026
Multifocal Electroretinograms
Published on: December 4, 2011
MULTIMODAL IMAGING AND ELECTRORETINOGRAPHY IN LONG-CHAIN 3-HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY
James Lin1, Katherine Boudreault, Stephen Tsang
1*Department of Ophthalmology, Harkness Eye Institute, College of Physicians and Surgeons, Columbia University, New York, New York; and †Barbara & Donald Jonas Stem Cell & Regenerative Medicine Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology and Pathology & Cell Biology, Institute of Human Nutrition, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, New York.
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.
