Asymmetric choroidal hypopigmentation in a Son and mother with Waardenburg syndrome type I

Grewal Parampal S.; Knight Hannah; Michaelides Michel

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Asymmetric choroidal hypopigmentation in a Son and mother with Waardenburg syndrome type I

机译：戴维登堡综合征类型的儿子和母亲在儿子和母亲中的不对称脉络膜低层化

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Background: Waardenburg syndrome type I (WS-I) is a rare autosomal-dominant auditory-pigmentary disorder with limited reports in the Ophthalmic literature. Materials and Methods: We describe the history, clinical findings and detailed retinal imaging (ultra-widefield fundus images, fundus autofluorescence and optical coherence tomography) from a patient with WS-I. Case Description: Our patient had a history of white forelock and congenital hearing loss. Ophthalmic examination demonstrated iris heterochromia and highly asymmetric choroidal hypopigmentation, with generalised fundus hyperautofluorescence. Similarly, the patient's mother demonstrated highly asymmetric fundus hypopigmentation. Genetic testing confirmed a pathogenic PAX3 nonsense variant. Conclusion: Our report demonstrates that highly asymmetric choroidal hypopigmentation is within the clinical spectrum of WS-I.

机译：背景：Waardenburg综合征I型（WS-I）是一种稀有的常血体素 - 显性听觉 - 色素紊乱，在眼科文献中具有有限的报告。材料和方法：我们描述了从带有WS-I的患者的历史，临床发现和详细的视网膜成像（超广域眼底图像，眼底自发荧光和光学相干扫描）。案例描述：我们的患者有白人重建和先天性听力损失的历史。眼科检查证明了虹膜异质瘤和高度不对称的脉络膜低血入，具有广义眼底荧光。同样，患者的母亲展示了高度不对称的眼底性过度敏感。遗传检测证实了致病PAX3非阵容变体。结论：我们的报告表明，高度不对称的脉络膜低自置化在WS-1的临床谱内。

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《Ophthalmic genetics》 |2020年第3期|共4页
作者
Grewal Parampal S.; Knight Hannah; Michaelides Michel;
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作者单位

Moorfields Eye Hosp London England;

Moorfields Eye Hosp London England;

Moorfields Eye Hosp London England;

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原文格式 PDF
正文语种 eng
中图分类眼科学;
关键词
Retina; choroidal hypopigmentation; iris heterochromia; optical coherence tomography; fundus autofluorescence; Waardenburg syndrome;

机译：视网膜;脉络膜低层沉降;虹膜异质瘤;光学相干断层扫描;眼底自发荧光;Waardenburg综合症;
入库时间 2022-08-20 05:21:01

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专利

1. Asymmetric choroidal hypopigmentation in a Son and mother with Waardenburg syndrome type I [J] . Grewal Parampal S., Knight Hannah, Michaelides Michel Ophthalmic genetics . 2020,第3期

机译：戴维登堡综合征类型的儿子和母亲在儿子和母亲中的不对称脉络膜低层化
2. Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation [J] . Devesh Kumawat, Vinod Kumar, Pranita Sahay, Indian Journal of Ophthalmology . 2019,第9期

机译：Waardenburg综合征2A型虹膜和眼底双侧非对称性部分异色伴MITF基因突变
3. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2 [J] . Seco Celia Zazo, Serrao de Castro Luciana, van Nierop Josephine W., The American Journal of Human Genetics . 2015,第5期

机译：KITLG的等位基因突变，编码KIT配体，引起非对称和单侧听力损失和2型Waardenburg综合征
4. Surgery Outcome en Patients with Waardenburg Syndrome Facial Features [C] . Chavanne Juan Martin, Steinberg Diego M, Houssay Alfredo and Lovera Daniel A International Society of Craniofacial Surgery International Congress . 2009

机译：术后患者患有Waardenburg综合征面部特征的患者
5. Entering adulthood with special needs: Mothers' perceptions of their sons with fragile X syndrome, Down syndrome or mental illness [D] . O'Brien, Anne M. 2005

机译：进入有特殊需要的成年期：母亲对儿子患有脆性X综合征，唐氏综合症或精神疾病的看法
6. Allelic Mutations of KITLG Encoding KIT Ligand Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2 [O] . Celia Zazo Seco, Luciana Serrão de Castro, Josephine W. van Nierop, 2015

机译：KITLG的等位基因突变编码KIT配体导致非对称和单侧听力损失和2型Waardenburg综合征
7. Asymmetric choroidal hypopigmentation in a Son and mother with Waardenburg syndrome type I [O] . Parampal S. Grewal, Hannah Knight, Michel Michaelides 2020

机译：戴维登堡综合征类型的儿子和母亲在儿子和母亲中的不对称脉络膜低层敏感

Asymmetric choroidal hypopigmentation in a Son and mother with Waardenburg syndrome type I

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