Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada.
Kensington Vision and Research Center, University of Toronto, Toronto, ON, Canada.
Doc Ophthalmol. 2024 Oct;149(2):125-131. doi: 10.1007/s10633-024-09978-7. Epub 2024 Jun 3.
Vitamin A is a lipid-soluble compound that is critical in maintaining phototransduction. Ocular manifestations of hypovitaminosis A may present with anterior segment signs of xeropthalmia, with advanced cases also causing classic retinal and electrophysiologic changes of vitamin A deficiency retinopathy. We present a case of vitamin A deficiency retinopathy, with corresponding retinal imaging and electrophysiology, in an adult patient with celiac disease and liver fibrosis.
A single case report was conducted in Toronto, Canada.
A 77-year-old male with known celiac disease and liver fibrosis presented progressively worsening vision noticed primarily when driving. Vision was 20/50 OD and 20/200 OS. Bitot spots were noted on anterior segment examination. Fundus photography demonstrated bilateral peripheral macular hypopigmentation and far-peripheral granular retinal hypopigmentation with focal yellow dots and hyper-pigmented deposits. Optical coherence tomography (OCT) imaging demonstrated indistinct outer retinal banding with mild outer nuclear layer thinning, focal hyper-reflective deposits, and a thin choroid bilaterally. Full-field electroretinography (ERG) testing demonstrated reduced rod-isolated and combined rod-cone response amplitudes, and multifocal ERG testing demonstrated blunted individual responses throughout the field. The patient was treated with pulse vitamin A therapy. After 6 months of therapy, ERG responses were back within reference range, and the outer retinal changes reversed; visual acuity improved to 20/30 OD and 20/40 OS.
This case represents the classic findings of vitamin A deficiency retinopathy on fundus examination and electrophysiologic testing secondary to gastrointestinal pathology. Prompt treatment of high dose vitamin A supplementation led to improvement of full-field and multifocal ERG results, as well as reconstitution of outer retinal architecture.
维生素 A 是一种脂溶性化合物，对维持光转导至关重要。维生素 A 缺乏症的眼部表现可能在前节出现干眼症的迹象，严重病例还会引起典型的视网膜和维生素 A 缺乏性视网膜病变的电生理学变化。我们报告了一例维生素 A 缺乏性视网膜病变，伴有相应的视网膜成像和电生理学改变，患者为患有乳糜泻和肝纤维化的成年人。
在加拿大多伦多进行了一项单病例报告。
一名 77 岁男性患有已知的乳糜泻和肝纤维化，逐渐出现视力恶化，主要在驾驶时注意到。视力为 OD 20/50，OS 20/200。在前节检查中发现了 Bitot 斑点。眼底照相显示双侧周边黄斑色素减退和远周边颗粒状视网膜色素减退，伴有局灶性黄色斑点和高色素沉着沉积。光学相干断层扫描（OCT）成像显示外视网膜带轻度不清晰，外核层轻度变薄，局灶性高反射性沉积，双侧脉络膜变薄。全视野视网膜电图（ERG）检查显示杆孤立和联合杆锥反应幅度降低，多焦 ERG 检查显示整个视野的个体反应迟钝。患者接受脉冲维生素 A 治疗。治疗 6 个月后，ERG 反应恢复参考范围，外视网膜变化逆转；OD 视力提高至 20/30，OS 视力提高至 20/40。
本病例代表了眼底检查和电生理检查中胃肠道病变引起的维生素 A 缺乏性视网膜病变的典型表现。及时给予大剂量维生素 A 补充治疗可改善全视野和多焦 ERG 结果，并重建外视网膜结构。
