ArticleMolecular genetics and metabolism reports2024
Patient-reported visual function outcomes agree with visual acuity and ophthalmologist-graded scoring of visual function among patients with long-chain 3-hydroxyacylcoA dehydrogenase deficiency (LCHADD).
Article in Molecular genetics and metabolism reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
2 citing papers in PubMed.
- Participants with long-chain 3-hydroxy-acylCoA dehydrogenase deficiency (LCHADD)/trifunctional protein deficiency (TFPD) report consistent low-fat diet intake over time.Molecular genetics and metabolism · 2026Article
- Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)-Associated Ocular Pathology-A Narrative Review.Diagnostics (Basel, Switzerland) · 2026Review
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
Patients with LCHADD develop progressive chorioretinopathy with vision loss over time. To date, no data on the impact of vision loss on patient vision-specific activities of daily living or quality of life have been reported. We used validated ophthalmic patient-reported outcome measures (PROMs) to compare the impact of patient-perceived visual function to visual acuity and an ophthalmologist-graded stage of LCHADD chorioretinopathy. There was a strong correlation between the patient-reported visual function scores, visual acuity and the ophthalmologist's assigned stage. Adult patients reported lower driving and mental health scores compared to other visual subscales in the VFQ-25. Both children and their parents report a similar impact of their child's eye condition to their quality of life and worry about their vision. These validated PROMs captured functional vision in a group of 40 patients with LCHADD/TFPD that closely correlated with visual acuity and ophthalmologist-graded visual function.
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Registered trials
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