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 会导致与低视力、视野缺损、夜视和近视相关的视网膜病变。我们报告了一项对 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：通过眼底摄影、光学相干断层扫描 (OCT) 和自体荧光 (AF) 对所有 6 名患者的视力和脉络膜视网膜变性的分期进行长期随访。三名患者（2 m/1 f；年龄 8-14.8 岁）通过新生儿筛查确诊，一名患者在出生后第一年早期并得到及时治疗，而另外两名患者（1 m/1 f；年龄 23-24 岁） ) 在出现症状后被诊断出来。所有携带的 HADHA 变体；五个是常见 p.E510Q 变异的纯合子，其中一个来自有症状的诊断组 p.[E510Q]；检测到 [R291*]。

结果：所有患者均表现出视网膜改变，但早期诊断与较温和的表型和更长时间的视觉功能保留有关。在有症状的患者中，只有一名患者在诊断时表现出轻微的视网膜受累。

结论：尽管我们的研究数量很少，但我们的研究表明，早期诊断并不能预防视网膜病变，但可能有助于更温和的表型，随着时间的推移保持良好的视力。OCT 和 AF 是可靠的非侵入性诊断工具，可用于估计 LCHADD 患者早期视网膜变化的进展。