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FOXC1 variant in a family with anterior segment dysgenesis and normal-tension glaucoma.
Experimental Eye Research ( IF 3.4 ) Pub Date : 2020-09-06 , DOI: 10.1016/j.exer.2020.108220
Lior Or 1 , Yaniv Barkana 2 , Idan Hecht 1 , Chen Weiner 3 , Adi Einan-Lifshitz 1 , Eran Pras 4
Affiliation  

Our study describes the glaucoma phenotype in a family with Axenfeld-Rieger syndrome (ARS) and a FOXC1 variant.

Included were 20 subjects from a large three generation family of Jewish Indian ancestry. Subjects underwent a comprehensive ophthalmic examination including automated perimetry and optical coherence tomography. Eight subjects were available for molecular analysis which included whole genome sequencing on selected patients and Sanger sequencing for variant screening.

Eleven patients demonstrated a wide spectrum of Axenfeld-Rieger anomaly signs and symptoms. These ranged from subtle angle abnormalities to remarkable anterior segment abnormalities such as corectopia, iris adhesions and strands. Among them, six had glaucoma and two were glaucoma suspects. Of the six subjects with glaucoma three had high-tension glaucoma and two had normal-tension glaucoma. Molecular analysis revealed a previously described pathogenic variant in the FOXC1 gene (c.378C > G p.I126M; rs104893958), in six affected patients which was not identified in two healthy siblings. Molecular analysis also revealed a PITX2 missense variant (c.28T > A p.L10M; rs755864040) which did not segregate with clinical findings and was considered likely benign.

In conclusion, patients with ARS due to FOXC1 variants may present with glaucomatous optic nerve damage without apparent elevation in IOP. Normal-tension glaucoma is less commonly reported in individuals with ARS and a comprehensive glaucoma assessment may be warranted in these individuals even with normal IOP. These findings raise the possibility that glaucomatous damage associated with FOXC1 is not only due to high IOP.



中文翻译:

具有前节发育不全和正常血压青光眼的家庭中的FOXC1变体。

我们的研究描述了患有Axenfeld-Rieger综合征(ARS)和FOXC1变异的家庭中的青光眼表型。

其中包括来自大型三代犹太裔的20个主题。受试者接受了全面的眼科检查,包括自动视野检查和光学相干断层扫描。八名受试者可用于分子分析,包括对选定患者进行全基因组测序和用于变异筛选的Sanger测序。

11名患者表现出广泛的Axenfeld-Rieger异常体征和症状。这些范围从细微的角度异常到显着的前段异常,如小盲,虹膜粘连和股线。其中,有六个患有青光眼,两个是可疑的青光眼。在六个患有青光眼的受试者中,三个患有高血压青光眼,两个患有正常血压青光眼。分子分析揭示了先前描述的FOXC1基因的致病性变异(c.378C> G p.I126M; rs104893958),这是在六个患病的同胞中未发现的六名患者。分子分析还揭示了PITX2错义变体(c.28T> A p.L10M; rs755864040),它与临床发现没有分离,并且被认为是良性的。

总之,由于FOXC1变异而导致ARS的患者可能出现青光眼性视神经损害,而IOP却没有明显升高。在患有ARS的患者中,正常血压青光眼的报道较少,即使IOP正常,也可能需要对这些患者进行全面的青光眼评估。这些发现增加了与FOXC1相关的青光眼损害不仅是由于高眼压所致。

更新日期:2020-09-20
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