title: Clinical and image-guided chorioretinal findings in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
abstract: The purpose of this study is to report clinical, optical coherence tomography (OCT), and fluorescein angiogram/indocyanine green angiography (FA/ICG) findings in patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) enzyme deficiency in two siblings. A 13-year-old girl and her 14-year-old brother presented with progressive decrease in central vision. Clinically, there were blond-looking fundi, diffuse retinal pigment epithelial (RPE) disruption/atrophy in the macula and peripheral retina with choriocapillaris atrophy in both of them. OCT showed RPE irregularity and diffuse disruption of the RPE layer. FA/ICG imaging demonstrated transmitted choroidal fluorescence secondary to diffuse RPE atrophy with no evidence of leakage. Electroretinogram and electrooculogram findings were suggestive of primary abnormality of pigment epithelium. The boy died of cardiac/respiratory illness, whereas his sister is alive at the last follow-up. Abnormal chorioretinal findings in LCHAD patients should be carefully followed. Regular follow-up is recommended to monitor the ocular and systemic status.
authors.affiliation: Associated Retina Consultants Ltd., Phoenix, AZ 85020, USA. keen_268@yahoo.com
authors.forename: Kiran
authors.initials: K
authors.lastname: Turaka
authors.forename: Joseph Shepard
authors.initials: JS
authors.lastname: Bryan
authors.forename: Alan J
authors.initials: AJ
authors.lastname: Gordon
authors.forename: Henry M
authors.initials: HM
authors.lastname: Kwong
authors.forename: Rahul
authors.initials: R
authors.lastname: Reddy
authors.forename: Michael
authors.initials: M
authors.lastname: Tsipursky
authors.forename: Clive H
authors.initials: CH
authors.lastname: Sell
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D000293:Adolescent; D015862:Choroid Diseases / Q000201:enzymology / Q000209:etiology* / Q000473:pathology*; D005260:Female; D006801:Humans; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000201:enzymology; D012164:Retinal Diseases / Q000201:enzymology / Q000209:etiology* / Q000473:pathology*; D041623:Tomography, Optical Coherence
chemical_list: D015094:3-Hydroxyacyl CoA Dehydrogenases; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase