双侧隐眼:尼泊尔首例报告。

IF 0.3 Q4 OPHTHALMOLOGY Nepalese Journal of Ophthalmology Pub Date : 2021-07-01 DOI:10.3126/nepjoph.v13i2.34372
Nayana Pant, Subash Bhatta, Gulshan Bahadur Shrestha, Madhu Thapa
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引用次数: 0

摘要

导言:隐眼的特点是眼球部分或全部被皮肤包裹。隐丘脑伴随其他系统性异常被称为弗雷泽综合征。这是一种罕见的遗传疾病,文献记载有限。疾病的复杂性和有限的经验对其管理构成挑战。病例:一男婴出生两天,父母带他来,主诉自出生以来右眼眶区肿胀,左眼畸形。检查显示右眼眶区双叶状球状肿胀,由前额到脸颊覆盖一层连续的皮肤,未见眼部组织。左侧上睑缘、睫毛及上睑球缺失。双耳畸形,右肾发育不全。手术干预。在右侧,切除球体和囊肿。左侧行羊膜移植重建上睑并释放睑粘连。结论:隐丘脑的治疗具有挑战性。重建手术可以美容,但很少能获得有用的视力。据我们所知,这是迄今为止尼泊尔报告的首例病例。
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Bilateral Cryptophthalmus: First Case Report from Nepal.

Introduction: Cryptophthalmus is characterized by a partial or complete casing of the eyeball by the skin. Cryptophthalmus alongside other systemic abnormalities is well-known as Fraser syndrome. It is an unusual genetic disorder with limited literature. The complexities of disease and limited experience pose challenges in its management.

Case: A two-day-male neonate was brought by his parents with a complaint of swelling in the right orbital region and deformed left eye since birth. Examination revealed bilobed globular swelling in the right orbital region covered by a continuous sheet of skin from forehead to cheek with no visible ocular tissue. On the left side, there was absence of upper lid margin and eyelashes and superior symblepharon. He also had bilateral ear abnormalities and right renal agenesis. Surgical intervention was done. On the right side, removal of the globe and cyst was done. On the left side, upper eyelid reconstruction with symblepharon release was done with amniotic membrane transplantation.

Conclusions: The management of cryptophthalmus is challenging. Reconstructive surgeries allow cosmesis but useful vision is rarely gained. This is the first case report from Nepal to date to the best of our knowledge.

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