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)

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)

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...

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Bibliographic Details
Main Authors: Ashley N. Gregor, Danielle Black, Nida Wongchaisuwat, Mark E. Pennesi, Melanie B. Gillingham
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
LCHADD
LCHAD deficiency
TFPD
TFP deficiency
Chorioretinopathy
Patient-reported outcomes
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426924001241
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