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先天性小眼球合并眼眶囊肿:病例系列

Congenital Microphthalmia with Orbital Cyst: A Case Series.

作者信息

Hamal Diwa, Kafle Prerna Arjyal, Poudyal Priza, Saiju Rohit, Kc Hony, Kafle Santosh

机构信息

Department of Oculoplasty, Biratnagar Eye Hospital, Biratnagar Nepal.

Department of Laboratory Medicine, Biratnagar Eye Hospital, Biratnagar Nepal.

出版信息

JNMA J Nepal Med Assoc. 2019 May-Jun;57(217):193-197. doi: 10.31729/jnma.4473.

DOI:10.31729/jnma.4473
PMID:31477962
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8827507/
Abstract

Microphthalmos results from incomplete invagination of the optic vesicle or closure of the embryonic fissure. We present three patients with unilateral congenital microphthalmia with cyst. None of them had vision in the affected eye since birth. There was gradually increasing left eye orbital mass encroaching towards lower fornix and lower eyelid ectropion. On examination and investigations, patients had large orbital cyst with microphthalmia pushing the eyeball superiorly and posteriorly in affected orbit. Microphthalmic globe with cyst was surgically excised and histopathologically studied. Orbital cavity was big enough to occupy the conformer and the prosthetic eye after 6 weeks. Diagnosis was confirmed as large communicating orbital cyst with microphthalmia without systemic association in all the patients. None of the mothers of patients had regular antenatal check up. All the parents had consanguineous marriage. Antenatal check up with ultrasound at 14 to16 weeks of pregnancy is important for genetic counselling. Targeted abdominal ultrasound examination of pregnant women focused on the orbital region of foetus is recommended, in mothers who have children with congenital eye anomalies. Keywords: congenital anomaly; cyst; eye; microphthalmos.

摘要

小眼畸形是由视泡不完全内陷或胚胎裂闭合不全引起的。我们报告了3例单侧先天性小眼畸形伴囊肿的患者。他们自出生起患眼均无视力。左眼眼眶肿物逐渐增大,向下穹窿部侵犯,导致下睑外翻。经检查和调查,患者眼眶内有大囊肿,小眼畸形将眼球向上和向后推挤至患侧眼眶。对伴有囊肿的小眼眼球进行了手术切除并做了组织病理学研究。6周后眼眶腔足够大,可以容纳塑形片和义眼。所有患者均确诊为伴有小眼畸形的巨大交通性眼眶囊肿,无全身关联。患者的母亲均未进行定期产前检查。所有父母均为近亲结婚。妊娠14至16周时进行超声产前检查对遗传咨询很重要。对于有先天性眼部异常患儿的母亲,建议进行针对孕妇的腹部超声检查,重点关注胎儿的眼眶区域。关键词:先天性异常;囊肿;眼;小眼畸形

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/96ca/8827507/10258f1e8e47/JNMA-57-217-193-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/96ca/8827507/2c18e492e45c/JNMA-57-217-193-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/96ca/8827507/6cd6a0eb4ac4/JNMA-57-217-193-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/96ca/8827507/10258f1e8e47/JNMA-57-217-193-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/96ca/8827507/2c18e492e45c/JNMA-57-217-193-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/96ca/8827507/6cd6a0eb4ac4/JNMA-57-217-193-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/96ca/8827507/10258f1e8e47/JNMA-57-217-193-g3.jpg

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Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports.小眼症和无眼症的产前诊断及意义并对当前超声指南进行综述:两例病例报告
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Bilateral microphthalmos with unilateral superior cyst in a child with autism and CHARGE syndrome.一名患有自闭症和CHARGE综合征的儿童出现双侧小眼畸形并伴有单侧上方囊肿。
Int Ophthalmol. 2013 Apr;33(2):195-8. doi: 10.1007/s10792-012-9653-y. Epub 2012 Oct 31.
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Anophthalmic Socket Syndrome: Prevalence, Impact and Management Strategies.无眼球眼窝综合征:患病率、影响及管理策略
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Congenital Microphthalmia with Intraorbital Cyst: A Rare Case Report.先天性小眼球合并眶内囊肿:1例罕见病例报告
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Congenital microphthalmos with orbital cysts: distinct diagnostic features and management.伴有眼眶囊肿的先天性小眼球:独特的诊断特征与治疗
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