Self-perceived visual function in people with long-chain 3-hydroxyacyl-CoA dehydrogenase and trifunctional protein deficiencies and factors related to retinopathy progression Public Deposited

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and trifunctional protein
(TFP) deficiencies are inherited disorders of long-chain fatty acid metabolism caused by
mutations to the genes encoding for the mitochondrial trifunctional protein. A progressive
retinopathy occurs in both disorders and researchers have observed a faster
progression of retinopathy in patients with LCHAD deficiency compared to TFP
deficiency. This study used a modified version of the National Eye Institute 25-item
Visual Function Questionnaire to assess the areas of vision that are affected in these
patients and compared survey scores to evaluate whether the progression of retinopathy
differed by genotype. We also examined factors thought to be related to retinopathy
progression and their relationship with survey scores of visual functions. This study
provides insight into the aspects of visual function and perceived effects of vision
impairment on vision and socioemotional outcomes in subjects with LCHAD and TFP
deficiencies.


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  • https://doi.org/10.6083/wm117p38n
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  • 2018
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