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. 2024 Dec 2:41:101171.
doi: 10.1016/j.ymgmr.2024.101171. eCollection 2024 Dec.

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)

Ashley N Gregor  1 , Danielle Black  2 , Nida Wongchaisuwat  3 , Mark E Pennesi  3   4 , Melanie B Gillingham  1
Affiliations

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)

Ashley N Gregor et al. Mol Genet Metab Rep. .

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.

Keywords: Chorioretinopathy; LCHAD deficiency; LCHADD; Patient-reported outcomes; TFP deficiency; TFPD.

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Conflict of interest statement

Ashley Gregor, Danielle Black and Nida Wongchaisuwat have no competing interests. Melanie B Gillingham has received speaker honorium from Ultragenyx Pharmaceutical Inc., Vitaflow, and Nutricia, and received research grant/funds from Nestle Bioscience and Reneo Pharmaceutical. Mark E Pennesi has received consulting fees from 4D Molecular Therapeutics, Adverum, Arrowhead Pharmaceuticals, AGTC, Aldebraran, Ascidian, Atsena, Astellas, BlueRock-Opsis, Coave, ClarisBio, Dompe, Editas, Edigene, Endogena, FFB, Ingel Therapeutics J-Cyte, Janssen, KalaTherapeutics, Kiora, Nacuity Pharmaceuticals, Ocugen, Ora, ProQR, Prime Editing, PTC Therapeutics, PYC Therapeutics, Ray Therapeutics, Rejuvitas, RestoreVision, RegenexBio, Sparing Vision, SpliceBio, Spotlight Therapeutics, Thea and Theranexus. He has received clinical trial support from 10.13039/100015195AGTC, Biogen, Editas, FFB, ProQR, Reneuron. He has received fees as part of the Data Safety Montitoring Board (DSMB) for Akous, Gensight. He has equity in the following companies: Aldebaran, Atsena, Endogena, EnterX, Ingel Therapeutics, Kiora, Nacuity Pharmaceuticals, Ocugen, and ZipBio.

Figures

Fig. 1
Fig. 1
Correlation analysis and PROM scores in adults and children with LCHAD/TFP deficiency. A) Pearson correlation of VFQ-25 composite score (N = 14) and Spearman correlation of PedEyeQ Child Functional Vision score (ages 5–17 years, N = 22) with visual acuity (LogMAR) B) Pearson correlation of VFQ-25 composite score (N = 14) and Spearman correlation of PedEyeQ Child Functional Vision score (ages 5–17 years, N = 22) with ophthalmologist-graded chorioretinopathy stage C) VFQ-25 subscale scores D) PedEyeQ Child questionnaire scores for ages 5–17 years E) PedEyeQ Proxy questionnaire scores for ages 0–17 years F) PedEyeQ Parent questionnaire scores for ages 0–17 years. Boxes represent 1st quartile, median, and 3rd quartile range; whiskers represent the minimum and maximum range; + denotes mean score.
See this image and copyright information in PMC

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