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 language | English (US) |
|---|---|
| Pages (from-to) | S107-S112 |
| Journal | Retinal Cases and Brief Reports |
| Volume | 11 |
| Issue number | 1 |
| DOIs | |
| State | Published - 2017 |
| Externally published | Yes |
Keywords
- Chorioretinopathy
- LCHAD deficiency
- OCT angiography
ASJC Scopus subject areas
- Ophthalmology