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- W2158338744 abstract "Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare metabolic disorder that can lead to acute encephalopathy, liver disease, cardiomyopathy, rhabdomyolysis, and long-term complications involving the eye and peripheral nerves. LCHADD is a peroxisome biogenesis disorder (PBD). Except for the series presented by Tyni and colleagues (Ophthalmology 1998;105:810-824), which described visually insignificant lens opacities in association with LCHADD, previous ophthalmic papers have only reported retinal complications. We report on one case with progressive asymmetrical cataract. The more mildly affected eye had a similar morphology to that previously reported and the more severely affected eye had an unusual morphology we believe is unique to LCHADD. We discuss the range of ophthalmic presentations in our cases and in the literature. The variability of the severity of ocular complications, even between eyes in one individual, makes it difficult to test the effectiveness of therapeutic options upon the ophthalmic complications." @default.
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- W2158338744 date "2003-01-01" @default.
- W2158338744 modified "2023-09-26" @default.
- W2158338744 title "Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)" @default.
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- W2158338744 doi "https://doi.org/10.1076/opge.24.1.49.13890" @default.
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