title: [Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization].
abstract: We report the case of a 9-year-old girl with a long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency. This enzyme participates in mitochondrial fatty acid B-oxidation. Genetic fatty acid oxidation defects induce cellular energetic deficiency, and thus early life-threatening manifestations. An appropriate diet prevents these severe disorders. Nevertheless, LCHAD deficiency is the only B-oxidation enzymatic disorder that induces a chorioretinopathy, predominating at the posterior pole. We describe the first case of bilateral macular choroidal neovascularization. One eye presented a fibrovascular lesion. The other eye presented an active neovascularization stabilized by two dynamic phototherapies. The specificity of choroidal degeneration related to LCHAD deficiency remains unknown. Reviewing of literature and biochemical mechanisms suggests that fatty acid oxidative stress rather than a mitochondrial energetic defect is involved. For practical purposes, this report emphasizes the importance of ophthalmological follow-up of these patients.
authors.affiliation: Service d'Ophtalmologie, Hôpital Bretonneau, Tours. danstopek@gmail.com
authors.forename: D
authors.initials: D
authors.lastname: Stopek
authors.forename: E
authors.initials: E
authors.lastname: Gitteau Lala
authors.forename: F
authors.initials: F
authors.lastname: Labarthe
authors.forename: M L
authors.initials: ML
authors.lastname: Le Lez
authors.forename: S
authors.initials: S
authors.lastname: Majzoub
authors.forename: P
authors.initials: P
authors.lastname: Castelnau
authors.forename: P J
authors.initials: PJ
authors.lastname: Pisella
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D002648:Child; D020256:Choroidal Neovascularization / Q000201:enzymology*; D005260:Female; D006801:Humans; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase
chemical_list: D015094:3-Hydroxyacyl CoA Dehydrogenases; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase