扩展突变的表型谱：从先天性白内障到眼球震颤。
Expanding the Phenotypic Spectrum of Mutations: From Congenital Cataracts to Nystagmus.
机构信息
Department of Ophthalmology, Hospital Universitario La Paz, 28046 Madrid, Spain.
Department of Molecular Developmental Disorders, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain.
出版信息
Genes (Basel). 2021 May 9;12(5):707. doi: 10.3390/genes12050707.
BACKGROUND
Congenital aniridia is a complex ocular disorder, usually associated with severe visual impairment, generally caused by mutations on the gene. The clinical phenotype of mutations is highly variable, making the genotype-phenotype correlations difficult to establish.
METHODS
we describe the phenotype of eight patients from seven unrelated families with confirmed mutations in , and very different clinical manifestations.
RESULTS
Only two patients had the classical aniridia phenotype while the other two presented with aniridia-related manifestations, such as aniridia-related keratopathy or partial aniridia. Congenital cataracts were the main manifestation in three of the patients in this series. All the patients had nystagmus and low visual acuity.
CONCLUSIONS
The diagnosis of mild forms of aniridia is challenging, but these patients have a potentially blinding hereditary disease that might present with a more severe phenotype in future generations. Clinicians should be aware of the mild aniridia phenotype and request genetic testing to perform an accurate diagnosis.
背景
先天性无虹膜是一种复杂的眼部疾病，通常伴有严重的视力损害，通常由 基因突变引起。 基因突变的临床表型高度可变，使得基因型-表型相关性难以建立。
方法
我们描述了七个无关联家庭的八名经证实存在 基因突变的患者的表型，这些患者的临床表现差异很大。
结果
只有两名患者具有典型的无虹膜表型，而另外两名患者表现出与无虹膜相关的表现，如无虹膜相关的角膜病或部分无虹膜。先天性白内障是本系列患者中的三名患者的主要表现。所有患者均有眼球震颤和低视力。
结论
轻度无虹膜的诊断具有挑战性，但这些患者患有潜在致盲的遗传性疾病，在未来几代人中可能表现出更严重的表型。临床医生应注意轻度无虹膜表型并要求进行基因检测以进行准确诊断。
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