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CHARGE Syndrome Associated with Ocular Abnormalities: A Case Report with Treatment of Amblyopia and Refractive Correction.与眼部异常相关的CHARGE综合征：一例弱视治疗与屈光矫正的病例报告
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本文引用的文献

1
Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation.CHARGE 综合征的视觉功能和眼科表现：文献复习、新临床谱定义及基因型表型相关性。
Genes (Basel). 2021 Jun 25;12(7):972. doi: 10.3390/genes12070972.
2
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.CHARGE 综合征 119 例法国队列患者的表型和基因型分析。
Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):417-430. doi: 10.1002/ajmg.c.31591. Epub 2017 Nov 27.
3
Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe).制定CHARGE综合征检查表：全生命周期（从头到脚）的健康监测。
Am J Med Genet A. 2017 Mar;173(3):684-691. doi: 10.1002/ajmg.a.38085. Epub 2017 Feb 4.
4
Mutation update on the CHD7 gene involved in CHARGE syndrome.CHD7 基因突变与 CHARGE 综合征相关。
Hum Mutat. 2012 Aug;33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16.
5
Ophthalmic features of CHARGE syndrome with CHD7 mutations.CHD7 基因突变型 CHARGE 综合征的眼部特征。
Am J Med Genet A. 2012 Mar;158A(3):514-8. doi: 10.1002/ajmg.a.34400. Epub 2012 Feb 2.
6
Ocular features of CHARGE syndrome.CHARGE综合征的眼部特征。
J AAPOS. 2008 Oct;12(5):460-5. doi: 10.1016/j.jaapos.2008.02.009. Epub 2008 May 2.
7
Amblyopia.弱视
Lancet. 2006 Apr 22;367(9519):1343-51. doi: 10.1016/S0140-6736(06)68581-4.
8
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.伴有CHD7突变的CHARGE综合征的表型谱。
J Pediatr. 2006 Mar;148(3):410-4. doi: 10.1016/j.jpeds.2005.10.044.
9
The history of the treatment of amblyopia.弱视治疗的历史。
Strabismus. 2005 Jun;13(2):93-106. doi: 10.1080/09273970590949818.
10
Randomized trial of treatment of amblyopia in children aged 7 to 17 years.7至17岁儿童弱视治疗的随机试验。
Arch Ophthalmol. 2005 Apr;123(4):437-47. doi: 10.1001/archopht.123.4.437.

与眼部异常相关的CHARGE综合征：一例弱视治疗与屈光矫正的病例报告

CHARGE Syndrome Associated with Ocular Abnormalities: A Case Report with Treatment of Amblyopia and Refractive Correction.

作者信息

Aldakhil Sulaiman

机构信息

Department of Optometry, College of Applied Medical Sciences, Qassim University, Buraydah, Saudi Arabia.

出版信息

Clin Optom (Auckl). 2021 Oct 25;13:303-307. doi: 10.2147/OPTO.S335805. eCollection 2021.

DOI:10.2147/OPTO.S335805
PMID:34729028
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8556721/
Abstract

CHARGE syndrome is a rare genetic disorder associated with many ocular anomalies including amblyopia, strabismus and high refractive errors. It has been found that the visual acuity of patients with CHARGE syndrome is typically lower than 20/60. After reviewing the literature, there has been a lack of detailed information about the assessments of visual function. Thus, this case report illustrates the strategy plan to treat amblyopia and refractive correction for a young girl with CHARGE syndrome.

摘要

CHARGE综合征是一种罕见的遗传性疾病，与多种眼部异常有关，包括弱视、斜视和高度屈光不正。研究发现，CHARGE综合征患者的视力通常低于20/60。在查阅文献后，发现缺乏有关视觉功能评估的详细信息。因此，本病例报告阐述了针对一名患有CHARGE综合征的年轻女孩的弱视治疗和屈光矫正策略计划。