000004059 001__ 4059
000004059 005__ 20231129124937.0
000004059 0247_ $$2DOI$$a10.6083/wm117p38n
000004059 037__ $$aETD
000004059 245__ $$aSelf-perceived visual function in people with long-chain 3-hydroxyacyl-CoA dehydrogenase and trifunctional protein deficiencies and factors related to retinopathy progression
000004059 260__ $$bOregon Health and Science University
000004059 269__ $$a2018
000004059 336__ $$aThesis
000004059 502__ $$bM.S.
000004059 520__ $$aLong-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and trifunctional protein (TFP) deficiencies are inherited disorders of long-chain fatty acidmetabolism caused by mutations to the genes encoding for the mitochondrial trifunctional protein. A progressive retinopathy occurs in both disorders and researchers have observed a faster 
progression of retinopathy in patients with LCHAD deficiency compared to TFP deficiency. This study used a modified version of the National Eye Institute 25-item Visual Function Questionnaire to assess the areas of vision that are affected in these patients and compared survey scores to evaluate whether the progression of retinopathy differed by genotype. We also examined factors thought to be related to retinopathy progression and their relationship with survey scores of visual functions. This study provides insight into the aspects of visual function and perceived effects of vision impairment on vision and socioemotional outcomes in subjects with LCHAD and TFP deficiencies.
000004059 540__ $$fCC BY
000004059 542__ $$fIn copyright - single owner
000004059 650__ $$aMitochondrial Trifunctional Protein$$040282
000004059 650__ $$aChoroid Diseases$$028710
000004059 650__ $$aRetinal Diseases$$025391
000004059 650__ $$aLong-Chain-3-Hydroxyacyl-CoA Dehydrogenase$$040280
000004059 650__ $$aVision Disorders$$027855
000004059 650__ $$aLipid Metabolism, Inborn Errors$$021536
000004059 691__ $$aSchool of Medicine$$041369
000004059 7001_ $$aLeBrun, Lindsay
000004059 8564_ $$95233dd25-8b9c-4088-9ead-0e6d5fe7b988$$s748270$$uhttps://digitalcollections.ohsu.edu/record/4059/files/lebrun.lindsay.2018.pdf
000004059 905__ $$a/rest/prod/wm/11/7p/38/wm117p38n
000004059 909CO $$ooai:digitalcollections.ohsu.edu:4059$$pstudent-work
000004059 980__ $$aTheses and Dissertations