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Wydanie 1/2010
str. 24

Objawy okulistyczne u dzieci z niedoborem dehydrogenazy 3-hydroksyacylo-koenzymu A długołańcuchowych kwasów tłuszczowych (LCHAD)

Ocular Findings in Children with Long Chain 3-hydroxyacyl-coenzyme A-dehydrogenase (LCHAD) Deficiency

Mirosława Grałek¹, Jolanta Sykut-Cegielska², Dorota Klimczak-Ślączka¹, Wojciech Hautz¹, Krystyna Kanigowska¹

¹ Klinika Okulistyki ?Instytutu ? Pomnik Centrum Zdrowia Dziecka? w Warszawie
  Kierownik: prof. dr hab. n. med. Mirosława Grałek
² Klinika Chorób Metabolicznych, Endokrynologii i Diabetologii
  ?Instytutu ? Pomnik Centrum Zdrowia Dziecka? w Warszawie
  Kierownik: doc. dr hab. n. med. Jolanta Sykut-Cegielska

Summary: Long chain 3 ?hydroxyacyl-CoA dehydrogenase (LCHAD) is the enzyme engaged in mitochondrial fatty acid beta-oxidation. LCHAD deficiency leads to the long-chain fatty acid oxidation block. This is an autosomal recessive disorder. The fatty acid oxidation defect results in adverse effects on a number of organ systems. The retinal pigment epithelium (RPE) and the choriocapillares are affected early in the retinopathy associated with LCHAD deficiency. The purpose of the study was to determine changes in visual organ in children with LHCAD deficiency. Material and Methods: 12 children (7 girls and 5 boys with DCHAD in the age between 7 months and 13 years with LCHAD deficiency) were examined. Visual acuity, refraction, anterior segment and eye fundus were measured. Results: 7 children had significant loss in visual acuity, in 6 children refraction errors were present. In 9 patients pigmentary retinopathy with central and periph eral changes and depigmentation was diagnosed. Conclusions: LCHAD deficiency involves characteristic retinal changes with vision loss.

Słowa kluczowe: mitochondrialna beta oksydacja kwasów tłuszczowych, niedobór LCHAD, objawy oczne, nabłonek barwnikowy siatkówki, choriokapilary, retinopatia barwnikowa.

Keywords: mitochondrial fatty acid beta oxidation, LCHAD deficiency, ocular symptoms, retinal pigment epithelium, choriocapillares, pigmentary retinopathy.

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