Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor.

PURPOSE: Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is one of the recently discovered defects of mitochondrial fatty acid beta-oxidation surprisingly associated with ophthalmologic abnormalities. The presentation of a long-term survivor may enlarge the clinical spectrum associated with this disorder.
METHODS: A 12-year retrospective review of the clinical course of a 19-year-old long-term survivor was performed. The author concentrated on characteristic ophthalmologic measures: visual acuity, refraction, ophthalmoscopy, visual fields, and electroretinography.
RESULTS: The author found a milder course than described in the literature, although very few case reports of long-term survivors have been published. The patient developed slower circumscribed atrophy of the choroid, retinal pigment epithelium, and retina.
CONCLUSIONS: Because of therapeutic and prenatal diagnostic opportunities in LCHAD deficiency, it is important to recognize this severe disorder early in its course. This may lead to a milder course and better prognosis due to early dietary therapy.