title: [Ocular signs of a mitochondrial trifunctional protein defect. A long-term follow-up].
abstract: A 13-year-old boy presented with a defect of the mitochondrial trifunctional protein (MTP). The MTP complex catalyses ß-oxidation of long chain fatty acids. Disorders of this multienzyme complex result in accumulation of hydroxylated long chain fatty acids which leads to chorioretinopathy. Ophthalmoscopic findings in these patients include fine hyperpigmentation while autofluorescence reveals hyperfluorescent granules at the posterior pole. Visual acuity, visual fields and electroretinography are within the normal range. A special long chain fatty acid-reduced diet seems to delay the progression of chorioretinopathy.
authors.affiliation: Augenklinik, Universitätsklinikum Heidelberg.
authors.forename: T
authors.initials: T
authors.lastname: Ach
authors.forename: G
authors.initials: G
authors.lastname: Kolling
authors.forename: K
authors.initials: K
authors.lastname: Rohrschneider
authors.forename: C
authors.initials: C
authors.lastname: Richter
authors.forename: D
authors.initials: D
authors.lastname: Haas
authors.forename: A
authors.initials: A
authors.lastname: Schmidt-Bacher
mesh_terms: D000293:Adolescent; D002825:Chorioretinitis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D005500:Follow-Up Studies; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000235:genetics*
chemical_list: D009097:Multienzyme Complexes; D063991:Mitochondrial Trifunctional Protein