缺乏3-羟基-辅酶a长链脱氢酶（LCHAD）引起的色素性科里视网膜病：一个长期随访的临床病例

Q3 Medicine

Archivos De La Sociedad Espanola De Oftalmologia Pub Date : 2025-08-01 DOI:10.1016/j.oftal.2025.04.003

N. Castro Casal, N. Olivier Pascual, R. Arroyo Castillo

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引用次数: 0

摘要

长链3-羟基酰基辅酶a脱氢酶缺乏症（LCHAD）是一种罕见但严重的遗传性疾病，可引起色素脉络膜视网膜病变。我们提出的情况下，20岁的女性患者诊断为LCHAD新生儿筛查与改变视网膜色素上皮（RPE）自3岁。眼底检查显示椒盐斑状颗粒状，弥漫性周围绒毛膜视网膜萎缩。患者病情稳定，视力无症状，经过超过15年的视网膜造影，光学相干断层扫描（OCT），自体荧光（FAF）和视网膜电图（ERG）的随访，系统控制良好，这是控制的必要条件。这个病例强调了早期诊断和治疗的重要性，以防止失代偿和改善生存和进展。

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Coriorretinopatía pigmentaria por déficit de 3-hidroxiacil-CoA-deshidrogenasa de cadena larga (LCHAD): un caso clínico con seguimiento a largo plazo

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a rare but severe genetic disorder that causes pigmentary chorioretinopathy. We present the case of a 20-year-old female patient diagnosed with LCHAD by neonatal screening with alteration of the retinal pigment epithelium (RPE) since the age of 3 years. Fundus examination showed a salt-and-pepper speckled granular pattern and diffuse peripheral chorioretinal atrophy. The patient is stable, visually asymptomatic and with good systemic control after more than 15 years of follow-up with retinography, optical coherence tomography (OCT), autofluorescence (FAF) and electroretinogram (ERG), essential for control. This case highlights the importance of early diagnosis and treatment to prevent decompensation and improve survival and progression.

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来源期刊

Archivos De La Sociedad Espanola De Oftalmologia Medicine-Ophthalmology

CiteScore

1.20

自引率

0.00%

发文量

109

审稿时长

78 days

期刊介绍： La revista Archivos de la Sociedad Española de Oftalmología, editada mensualmente por la propia Sociedad, tiene como objetivo publicar trabajos de investigación básica y clínica como artículos originales; casos clínicos, innovaciones técnicas y correlaciones clinicopatológicas en forma de comunicaciones cortas; editoriales; revisiones; cartas al editor; comentarios de libros; información de eventos; noticias personales y anuncios comerciales, así como trabajos de temas históricos y motivos inconográficos relacionados con la Oftalmología. El título abreviado es Arch Soc Esp Oftalmol, y debe ser utilizado en bibliografías, notas a pie de página y referencias bibliográficas.