The purpose of this clinical case report is to describe a case of mucopolysaccharidosis type IVA (MPS IVA), or Morquio syndrome, with increased choroidal thickness in enhanced-depth imaging optical coherence tomography (EDI-OCT) which can represent choroidal deposition of glycosaminoglycans (GAGs). A 21-year-old male with genetically confirmed diagnosis of MPS IVA was examined at our Pediatric Ophthalmology clinic as part of our follow-up protocol for MPS patients. His best-corrected visual acuity was 4/10 in his right eye (OD) and 6/10 in the left eye (OS). Mild diffuse corneal opacification was evident. Intraocular pressure was within normal range. Fundus examination and color fundus photography revealed no abnormalities. EDI-OCT revealed significantly increased choroidal thickness in his right eye and in his left eye, suggesting the presence of choroidal deposition of GAGs, despite absence of retinal or optic disc GAG deposition or other chorioretinal involvement. To our knowledge, this is the first case of MPS IVA described in the literature with suspected choroidal deposition of GAGs. With improved control of systemic features of MPS IVA, life expectancy of these patients has increased, allowing for more ocular manifestations to develop. The parallel development of technology in ophthalmology, such as the EDI-OCT, further contributes to the detection of these unprecedented ocular features in MPSs.
Case Rep Ophthalmol 2021;12:816–823

中文翻译：

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Morquio综合征脉络膜厚度增加

本临床病例报告的目的是描述 IVA 型粘多糖贮积症 (MPS IVA) 或 Morquio 综合征的病例，在增强深度成像光学相干断层扫描 (EDI-OCT) 中脉络膜厚度增加，这可以代表糖胺聚糖的脉络膜沉积。 GAG）。作为 MPS 患者随访方案的一部分，一名 21 岁男性在我们的儿科眼科诊所接受了基因确诊 MPS IVA 的检查。他的最佳矫正视力为右眼 (OD) 4/10 和左眼 (OS) 6/10。轻度弥漫性角膜混浊是明显的。眼压在正常范围内。眼底检查及彩色眼底照相未见异常。EDI-OCT 显示他的右眼和左眼脉络膜厚度显着增加，表明存在 GAG 脉络膜沉积，尽管没有视网膜或视盘 GAG 沉积或其他脉络膜视网膜受累。据我们所知，这是文献中描述的第一例疑似 GAG 脉络膜沉积的 MPS IVA 病例。随着对 MPS IVA 全身特征的控制得到改善，这些患者的预期寿命增加，允许出现更多的眼部表现。眼科技术的平行发展，如 EDI-OCT，进一步有助于检测 MPS 中这些前所未有的眼部特征。随着对 MPS IVA 全身特征的控制得到改善，这些患者的预期寿命增加，允许出现更多的眼部表现。眼科技术的平行发展，如 EDI-OCT，进一步有助于检测 MPS 中这些前所未有的眼部特征。随着对 MPS IVA 全身特征的控制得到改善，这些患者的预期寿命增加，允许出现更多的眼部表现。眼科技术的平行发展，如 EDI-OCT，进一步有助于检测 MPS 中这些前所未有的眼部特征。
Case Rep Ophthalmol 2021；12:816–823