Purpose: 

The purpose of this report was to describe the ocular findings in Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy (MIRAGE) syndrome, a multisystem congenital disorder.

Methods: 

This was a case report and literature review.

Results: 

An infant with MIRAGE syndrome (combined immunodeficiency with recurrent infections, growth restriction, adrenal insufficiency, 46,XY karyotype with hypovirilization, dysphagia, gastroesophageal reflux disease, and dysautonomia) underwent ophthalmological evaluation because of persistent conjunctivitis during his 8-month admission in the neonatal intensive care unit. His parents noted absence of tears when crying since birth. Bilateral broad corneal epithelial defects were noted, and treatment was initiated with frequent lubricating ointment. At 9 months, his vision was estimated at 20/380 in both eyes using Teller Acuity Cards. There were persistent bilateral epithelial defects, confluent punctate epithelial erosions, low Schirmer strip wetting (right eye 3 mm and left eye 2 mm), and decreased corneal sensation. Brain magnetic resonance imaging images demonstrated hypoplastic lacrimal glands bilaterally. More aggressive lubrication and installation of punctal plugs in all 4 lids were successful at preventing further epithelial defects.

Conclusions: 

This case presents deficient lacrimation as a manifestation of MIRAGE syndrome and is the first to identify lacrimal gland hypoplasia and corneal anesthesia. Autonomic and neurologic dysfunction have been proposed to play a role in the pathophysiology of hypolacrimation in similar syndromes and likely contributed to the poor ocular surface in this case. Patients with MIRAGE should undergo ophthalmic assessment as soon as possible after birth because early intervention is essential to preventing irreversible corneal damage.

中文翻译：

---

MIRAGE 综合征中的泪腺发育不全和角膜麻醉：病例报告和文献回顾

目的： 

本报告的目的是描述骨髓发育不良、感染、生长受限、肾上腺发育不全、生殖器问题和肠病 (MIRAGE) 综合征（一种多系统先天性疾病）的眼部发现。

方法： 

这是一个病例报告和文献回顾。

结果： 

一名患有 MIRAGE 综合征（免疫缺陷伴反复感染、生长受限、肾上腺功能不全、46,XY 核型伴有低男性化、吞咽困难、胃食管反流病和自主神经功能障碍）的婴儿在新生儿入院 8 个月期间因持续性结膜炎而接受了眼科评估重症监护室。他的父母注意到他从出生就哭泣时没有流泪。注意到双侧广泛的角膜上皮缺损，并开始使用频繁的润滑软膏进行治疗。在 9 个月大时，使用 Teller Acuity Cards 估计他的双眼视力为 20/380。存在持续的双侧上皮缺损、融合的点状上皮糜烂、低 Schirmer 条湿润（右眼 3 毫米和左眼 2 毫米），以及角膜感觉下降。脑磁共振成像图像显示双侧泪腺发育不全。更积极的润滑和在所有 4 个盖子中安装泪管塞成功地防止了进一步的上皮缺损。

结论： 

该病例将流泪不足作为MIRAGE综合征的一种表现，是第一个发现泪腺发育不全和角膜麻醉的病例。已经提出自主神经和神经功能障碍在类似综合征中流泪的病理生理学中起作用，并且在这种情况下可能导致眼表不良。MIRAGE 患者应在出生后尽快进行眼科评估，因为早期干预对于预防不可逆的角膜损伤至关重要。