First Author: J.Marin Sanchez SPAIN
Co Author(s): I. Yago D. Martinez
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To describe ophthalmic changes in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and its functional correlation.
Paediatric Ophthalmology Unit, Hospital Universitario Virgen de la Arrixaca, Murcia (Spain)
The patient underwent ocular examinations including assessment of best corrected VA, stereopsis (Lang, Forch, Switzerland), ocular alignment, slit lamp investigation, ophthalmoscopy, fundus photography and refraction under cycloplegia. OCT (iVue; Optovue Inc.; Fremont, CA), visual field test and microperimetry (MAIA; centrevue, Padova, Italy) were performed when the patient´s collaboration made it possible. ERG and multifocal ERG was performed after pupil dilatation and 30 min of dark adaptation.
The diagnosis of metabolopathy was performed in the first year of life. After genetic confirmation of homozygous for the mutation 1528 G>C the patient was referred. At 3 years of age, the patient showed a subtle a peripapillar small granular pigmentation with UCVA of 1.0 in BE. Two years later, the retinal changes had progress and a diffuse mottled retinal pigmentation in posterior pole and midperiphery became evident. UCVA, maculae appearance and OCT remained normal. ERG showed abnormalities of the cone system. In the last two years the mottled appearance of the retina have increased, though there have no visual loss or changes in tomographic appearance of the maculae.
Previous reports confirmed the role of the mitochondrial fatty acid beta-oxidation pathway in the RPE metabolism. Accumulation of 3-hydroxylated intermediate of long chain fatty acids may contribute to the pathogenesis of the retinopathy described. Early subtle RPE changes could help in the diagnosis of this metabolopathy leading to early treatment and slow the progression of the disease and improve the prognosis.