TY  - THES
N2  - Long-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.
DO  - 10.6083/wm117p38n
DO  - DOI
AB  - Long-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.
T1  - Self-perceived visual function in people with long-chain 3-hydroxyacyl-CoA dehydrogenase and trifunctional protein deficiencies and factors related to retinopathy progression
DA  - 2018
AU  - LeBrun, Lindsay
L1  - https://digitalcollections.ohsu.edu/record/4059/files/lebrun.lindsay.2018.pdf
PB  - Oregon Health and Science University
PY  - 2018
ID  - 4059
L4  - https://digitalcollections.ohsu.edu/record/4059/files/lebrun.lindsay.2018.pdf
KW  - Mitochondrial Trifunctional Protein
KW  - Choroid Diseases
KW  - Retinal Diseases
KW  - Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase
KW  - Vision Disorders
KW  - Lipid Metabolism, Inborn Errors
TI  - Self-perceived visual function in people with long-chain 3-hydroxyacyl-CoA dehydrogenase and trifunctional protein deficiencies and factors related to retinopathy progression
Y1  - 2018
L2  - https://digitalcollections.ohsu.edu/record/4059/files/lebrun.lindsay.2018.pdf
LK  - https://digitalcollections.ohsu.edu/record/4059/files/lebrun.lindsay.2018.pdf
UR  - https://digitalcollections.ohsu.edu/record/4059/files/lebrun.lindsay.2018.pdf
ER  -