Vitamin A deficiency presenting with ptosis and optic neuropathy in child with autism spectrum disorder.

IF 2.6 4区医学 Q2 OPHTHALMOLOGY

Documenta Ophthalmologica Pub Date : 2025-06-01 DOI:10.1007/s10633-025-10028-z

Ryohei Morita, Kumiko Kato, Ryunosuke Nagashima, Mayumi Momose, Sumine Mori, Mineo Kondo

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引用次数: 0

Abstract

Purpose: To report our findings in a rare case of vitamin A deficiency (VAD) in a 5-year-old boy who presented with ptosis and exotropia.

Methods: Comprehensive ophthalmological examinations including full-field electroretinography (ff-ERG), optical coherence tomography, and magnetic resonance imaging were performed.

Results: The decimal visual acuity was 0.02 in both eyes at the initial examination. Ophthalmological examinations revealed bilateral corneal opacities, conjunctival keratinization, and exotropia. The scotopic ff-ERGs were extinguished and the photopic ff-ERGs were significantly reduced. Blood tests confirmed severe VAD of ≤ 5 IU/dL (normal range, 97-316 IU/dL). Optical coherence tomography (OCT) showed a thinning of the retinal nerve fiber layer, and MRI suggested a narrowing of the optic nerve canals. A detailed medical history identified autism and a highly selective eating habit limited to white rice. Oral vitamin A supplementation (0.6 g/day) and zinc acetate (25 mg/day) were initiated. Within one month, the corneal epithelial defects had resolved, and the ptosis improved. One year and three months post-treatment, the scotopic and photopic ff-ERGs were markedly improved. However, the OCT and visual evoked potential findings indicated a persistent optic neuropathy.

Conclusions: This case underscores the effect of irreversible optic neuropathy due to delayed VAD diagnosis and treatment in a pediatric patient. An early detailed dietary history, electrophysiological screening, and appropriate supplementation are critical tasks that are needed to lessen the risk of irreversible visual impairment in pediatric VAD cases.

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自闭症谱系障碍儿童的维生素A缺乏表现为上睑下垂和视神经病变。

目的：报告一例罕见的维生素a缺乏症（VAD）的5岁男孩，他表现为上睑下垂和外斜视。方法：采用全视场视网膜电图（ff-ERG）、光学相干断层扫描、磁共振成像等眼科综合检查。结果：初检时双眼十进制视力为0.02。眼科检查显示双侧角膜混浊、结膜角化和外斜视。暗位off - ergs被熄灭，光位off - ergs明显减少。血液检查证实严重VAD≤5 IU/dL（正常范围97-316 IU/dL）。光学相干断层扫描（OCT）显示视网膜神经纤维层变薄，MRI提示视神经管变窄。详细的病史表明，他患有自闭症，并且有高度选择性的饮食习惯，只吃白米饭。开始口服维生素A （0.6 g/d）和醋酸锌（25 mg/d）。1个月内，角膜上皮缺损消失，上睑下垂改善。治疗后1年和3个月，暗性和光性ff-ERGs明显改善。然而，OCT和视觉诱发电位显示持续的视神经病变。结论：本病例强调了由于VAD诊断和治疗延迟而导致的不可逆视神经病变在儿科患者中的影响。早期详细的饮食史、电生理筛查和适当的补充是降低儿童VAD病例中不可逆视力损害风险的关键任务。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Documenta Ophthalmologica 医学-眼科学

CiteScore

3.50

自引率

21.40%

发文量

审稿时长

>12 weeks

期刊介绍： Documenta Ophthalmologica is an official publication of the International Society for Clinical Electrophysiology of Vision. The purpose of the journal is to promote the understanding and application of clinical electrophysiology of vision. Documenta Ophthalmologica will publish reviews, research articles, technical notes, brief reports and case studies which inform the readers about basic and clinical sciences related to visual electrodiagnosis and means to improve diagnosis and clinical management of patients using visual electrophysiology. Studies may involve animals or humans. In either case appropriate care must be taken to follow the Declaration of Helsinki for human subject or appropriate humane standards of animal care (e.g., the ARVO standards on Animal Care and Use).