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Ophthalmic Images
April 14, 2016

Ultra–Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy

Author Affiliations
  • 1Associated Retinal Consultants, William Beaumont Hospital, Royal Oak, Michigan
JAMA Ophthalmol. 2016;134(4):e155033. doi:10.1001/jamaophthalmol.2015.5033

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder of mitochondrial fatty acid beta oxidation. Patients with LCHAD deficiency demonstrate early-onset cardiomyopathy, hypoglycemia, hepatic steatosis, rhabdomyolysis, and peripheral neuropathy.1 Ocular manifestations include a pigmentary retinopathy that progresses to chorioretinal atrophy.2 Fundus autofluorescence is largely unexplored in LCHAD deficiency, but we have been using the noninvasive imaging modality of ultra–wide-field autofluorescence as a method of monitoring progression in these patients. The images (Figure) are from a girl in her teens with LCHAD deficiency controlled with a low-fat, high-carbohydrate diet. Best-corrected visual acuity is 20/60 OU. The ophthalmic findings are bilateral and symmetric. There is a peninsula of residual choroidal vasculature centrally, which is permitting her central acuity.

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