一名患有B型钼辅因子缺乏症的6岁男孩的眼部特征。
Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B.
作者信息
Yan Wenjia, Huang Li, Sun Limei, Ding Xiaoyan
机构信息
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, 510000, China.
出版信息
Am J Ophthalmol Case Rep. 2022 May 14;27:101586. doi: 10.1016/j.ajoc.2022.101586. eCollection 2022 Sep.
PURPOSE
To report a rare case of Molybdenum Cofactor Deficiency with novel ocular manifestations.
OBSERVATIONS
This is a case study of a 6-year-old boy who initially presented with conjunctival hyperemia and ocular pain of the left eye. Medical history revealed refractory convulsion, global developmental delay, microcephaly, feeding difficulties, aphasia, and spastic quadriplegia, as well as pathogenic mutations, indicating the diagnosis of molybdenum cofactor deficiency (MoCD). This case report highlights detailed ocular manifestations of late-onset MoCD-B, ectopia lentis of bilateral eyes, spherophakia, hyperemia, secondary glaucoma, cyclodialysis, and retinal detachment of the left eye, which will help further understanding of MoCD.
CONCLUSIONS AND IMPORTANCE
MoCD as a rare genetic disease is tend to be easily neglected. The ophthalmic examination could provide important evidence for early diagnosis.
目的
报告一例罕见的伴有新型眼部表现的钼辅因子缺乏症病例。
观察结果
这是一项关于一名6岁男孩的病例研究，该男孩最初表现为左眼结膜充血和眼痛。病史显示有难治性惊厥、全面发育迟缓、小头畸形、喂养困难、失语和痉挛性四肢瘫痪，以及致病突变，提示诊断为钼辅因子缺乏症（MoCD）。本病例报告突出了迟发性MoCD-B的详细眼部表现，双眼晶状体异位、球形晶状体、充血、继发性青光眼、睫状体脱离和左眼视网膜脱离，这将有助于进一步了解MoCD。
结论与重要性
MoCD作为一种罕见的遗传疾病容易被忽视。眼科检查可为早期诊断提供重要依据。
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