Gregor Ashley N, Black Danielle, Wongchaisuwat Nida, Pennesi Mark E, Gillingham Melanie B
Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR, USA.
Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Mol Genet Metab Rep. 2024 Dec 2;41:101171. doi: 10.1016/j.ymgmr.2024.101171. eCollection 2024 Dec.
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.
患有长链脂肪酸氧化代谢障碍（LCHADD）的患者会随着时间推移逐渐出现进行性脉络膜视网膜病变并导致视力丧失。迄今为止，尚未有关于视力丧失对患者特定视力的日常生活活动或生活质量影响的数据报道。我们使用经过验证的眼科患者报告结局指标（PROMs）来比较患者自我感知的视觉功能与视力以及眼科医生对LCHADD脉络膜视网膜病变分级阶段的影响。患者报告的视觉功能评分、视力与眼科医生指定的阶段之间存在很强的相关性。与VFQ - 25中的其他视觉子量表相比，成年患者报告的驾驶和心理健康评分较低。儿童及其父母都报告说孩子的眼部状况对他们的生活质量有类似影响，并担心孩子的视力。这些经过验证的PROMs在一组40例LCHADD/TFPD患者中捕捉到了功能性视力，其与视力和眼科医生分级的视觉功能密切相关。
