Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation.
Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation.
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DOI：
10.3390/jpm10030105
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发表时间：
2020-08-27
影响因子：
--
通讯作者：
Robin N
中科院分区：
文献类型：
--
作者：
Boothe M;Morris R;Robin N
Stickler综合征（SS）是一种多系统胶原病，由于眼部并发症的发生率高，眼科医生经常遇到。受影响的个体患视网膜脱离和失明的风险显著增加，早期发现和诊断对于改善这些患者的视力结果至关重要。全身发现也很常见，颅面、骨骼和听觉系统经常受累。SS具有基因型和表型异质性，这使得识别和正确诊断个体变得困难。所有疑似SS患者都应考虑进行分子遗传学检测，因为诊断不仅有助于患者的治疗和管理，还可能有助于识别其他高危家庭成员。在这里，我们回顾了SS的常见临床表现和遗传学检查经常订购的SS评估的一部分。
Stickler Syndrome (SS) is a multisystem collagenopathy frequently encountered by ophthalmologists due to the high rate of ocular complications. Affected individuals are at significantly increased risk for retinal detachment and blindness, and early detection and diagnosis are critical in improving visual outcomes for these patients. Systemic findings are also common, with craniofacial, skeletal, and auditory systems often involved. SS is genotypically and phenotypically heterogenous, which can make recognizing and correctly diagnosing individuals difficult. Molecular genetic testing should be considered in all individuals with suspected SS, as diagnosis not only assists in treatment and management of the patient but may also help identify other at-risk family members. Here we review common clinical manifestation of SS and genetic tests frequently ordered as part of the SS evaluation.
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影响因子：
2.4
作者：
Pareek, Chandra Shekhar;Smoczynski, Rafal;Tretyn, Andrzej
通讯作者：
Tretyn, Andrzej
影响因子：
2
作者：
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通讯作者：
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影响因子：
8.8
作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
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影响因子：
3.5
作者：
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通讯作者：
Snead, MP