Lange Natalia, Bodetko Aleksandra Maria, Mozrzymas Renata, Kowal-Lange Agnieszka
Postgraduate Internship, Marciniak Lower Silesian Specialist Hospital, Wroclaw, Poland.
Postgraduate Internship, Research and Development Center, Provincial Specialist Hospital, Wroclaw, Poland.
Case Rep Ophthalmol. 2024 Apr 9;15(1):310-319. doi: 10.1159/000537895. eCollection 2024 Jan-Dec.
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, typically inherited as a recessive trait, is a genetic condition predominantly observed in Central and Eastern Europe, with birth prevalence in Poland amounting to 1/118,336. In most European countries, e.g., in Poland since 2014, this disorder is included in newborn screening.
This paper presents the ophthalmic symptoms of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency in three pediatric patients. Visual acuity testing, fundus photography, and optical coherence tomography (OCT) were performed and data were collected over several years (2017-2022). In case 1, a female born in 2010, exhibited abnormalities in the central part of the posterior pole, mainly in the macula, and included choriocapillaris atrophy and severe disruption of the outer retinal layer. Case 2, a female born in 2012, presented with progressive shortsightedness and choroid atrophy documented with angio-OCT. Case 3, a male born in 2013, experienced recurrent hospitalizations due to metabolic decompensations and presented with mild myopia, thinning of the choroid layer, and slight pigment dispersion with macular sparing.
The main ophthalmic symptoms of LCHAD deficiency were choroidal atrophy, disorganization of the outer retinal layer, and myopia. Choroidal atrophy and pigment dispersion were consistently the earliest signs of LCHAD-associated chorioretinopathy. Although the progression of chorioretinopathy in each case resulted from metabolic decompensation, one documented case revealed that not every metabolic crisis results in ophthalmological changes. Nonetheless, strict adherence to a low-fat, high-carbohydrate diet remains crucial to prevent gradual deterioration and vision loss.
长链3-羟基酰基辅酶A脱氢酶（LCHAD）缺乏症通常为隐性遗传，是一种主要在中欧和东欧观察到的遗传疾病，在波兰的出生患病率为1/118,336。在大多数欧洲国家，例如自2014年起在波兰，这种疾病被纳入新生儿筛查。
本文介绍了三名儿科患者长链3-羟基酰基辅酶A脱氢酶（LCHAD）缺乏症的眼部症状。进行了视力测试、眼底摄影和光学相干断层扫描（OCT），并在数年（2017 - 2022年）内收集了数据。病例1为一名2010年出生的女性，后极中部出现异常，主要在黄斑区，包括脉络膜毛细血管萎缩和外层视网膜严重破坏。病例2为一名2012年出生的女性，出现进行性近视和血管OCT记录的脉络膜萎缩。病例3为一名2013年出生的男性，因代谢失代偿反复住院，表现为轻度近视、脉络膜层变薄和轻微色素分散，黄斑区未受累。
LCHAD缺乏症的主要眼部症状为脉络膜萎缩、外层视网膜紊乱和近视。脉络膜萎缩和色素分散一直是LCHAD相关脉络膜视网膜病变的最早迹象。虽然每个病例中脉络膜视网膜病变的进展都由代谢失代偿引起，但有一例记录显示并非每次代谢危机都会导致眼科变化。尽管如此，严格坚持低脂、高碳水化合物饮食对于防止病情逐渐恶化和视力丧失仍然至关重要。
