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Abstract：
Introduction: LCHADD causes retinopathy associated with low vision, visual field defects, nyctalopia and myopia. We report a retrospective long-term single-center study of 6 LCHADD patients trying to clarify if early diagnosis has an impact on the course and outcome of chorioretinal degeneration. Methods: Long-term follow-up of visual acuity and staging of chorioretinal degeneration by fundus photography, optical coherence tomography (OCT) and autofluorescence (AF) in all six patients. Three patients (2 m/1 f; age 8-14.8 years) were diagnosed by newborn screening, a single patient early within the first year of life and treated promptly while the other two (1 m/1 f; age 23-24 years) were diagnosed later after developing symptoms. All carried HADHA variants; five were homozygous for the common p.E510Q variant, in one from the symptomatically diagnosed group p.[E510Q]; [R291*] was detected. Results: All patients showed retinal alterations, but early diagnosis was associated with a milder phenotype and a longer preservation of visual function. Among symptomatic patients, only one showed mild retinal involvement at the time of diagnosis. Conclusion: Despite the small number our study suggests that early diagnosis does not prevent retinopathy but might contribute to a milder phenotype with retained good visual acuity over time. OCT and AF are reliable non-invasive diagnostic tools to estimate the progression of early-stage retinal changes in LCHADD patients.
摘要：
简介：LCHADD导致与低视力相关的视网膜病变，视野缺陷,近视和近视。我们报告了6名LCHADD患者的回顾性长期单中心研究，试图阐明早期诊断是否对脉络膜视网膜变性的病程和结果有影响。方法:通过眼底照相对脉络膜视网膜变性的视力和分期进行长期随访,光学相干断层扫描（OCT）和自发荧光（AF）在所有6名患者。通过新生儿筛查诊断出3例患者（2m/1f；年龄8-14.8岁），一名患者在生命的第一年内早期并得到及时治疗，而另外两名患者（1m/1f;年龄23-24岁）在出现症状后被诊断出来。所有携带HADHA变体；五个是常见的p.E510Q变体的纯合，在一个来自症状诊断组的p。[E510Q]；[R291*]被检测到。结果:所有患者均表现为视网膜改变,但是早期诊断与更温和的表型和更长的视觉功能保留相关。在有症状的患者中，只有一例在诊断时显示轻度视网膜受累.结论：尽管数量很少，但我们的研究表明早期诊断并不能预防视网膜病变，但可能有助于较温和的表型，并随着时间的推移保留良好的视力。OCT和AF是评估LCHADD患者早期视网膜变化进展的可靠非侵入性诊断工具。
