Corneal endothelial neovascularization and glaucoma in X-linked Alport syndrome.

IF 1.4 4区 医学 Q3 OPHTHALMOLOGY
Lin Zhou, Yao Zhang, Chaohua Tian, Jinying Liao, Houjue Yu, Li Tang
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引用次数: 0

Abstract

Introduction: Variants in COL4A5 are responsible for X-linked Alport syndrome. It is characterized by kidney disease, sensorineural hearing loss and variable ocular abnormalities. In this case, a woman with corneal endothelial neovascularization, glaucoma, nuclear cataract, temporal retinal thinning, and renal defects was identified with a variant in COL4A5.

Case presentation: We described a 64-year-old woman who was referred to our Eye Clinic due to a progressive decline in vision in both eyes over the course of two years. Corneal endothelial neovascularization, elevated intraocular pressure (31.2 mmHg and 27.8 mmHg in the right and left eyes, respectively), lens opacity, an increased cup-to-disc (C/D) ratio (0.8 in both eyes), and thinner retinal nerve fiber layer were detected upon examination. Concurrently, microscopic hematuria and proteinuria were observed. Following phacoemulsification and the administration of Latanoprost, intraocular pressure returned to within the normal range. Whole exome sequencing revealed a novel hemizygous missense pathogenic variant in COL4A5 (c.3980G > T (p.G1327V)). Importantly, this particular variant was not identified in the healthy daughter of the proband, underscoring its potential relevance to the observed clinical manifestations.

Conclusions: Our study reports a novel phenotype observed in a 64-year-old woman, featuring corneal endothelial neovascularization and glaucoma, which has been linked to X-linked Alport syndrome caused by variants in COL4A5. This discovery contributes to the broadening of our understanding of the clinical heterogeneity associated with COL4A5 variants.

角膜内皮新生血管与x连锁Alport综合征青光眼的关系。
简介:COL4A5的变异是导致x连锁Alport综合征的原因。它的特点是肾脏疾病,感音神经性听力损失和可变的眼部异常。在本例中,一名患有角膜内皮新生血管、青光眼、核性白内障、颞视网膜变薄和肾脏缺陷的女性被鉴定为COL4A5变异。病例介绍:我们描述了一位64岁的女性,她因两年内双眼视力逐渐下降而被转介到我们的眼科诊所。检查发现角膜内皮新生血管形成,眼压升高(右眼31.2 mmHg,左眼27.8 mmHg),晶状体混浊,杯盘比(C/D)升高(双眼0.8),视网膜神经纤维层变薄。同时,显微镜下观察到血尿和蛋白尿。超声乳化术及拉坦前列素治疗后,眼压恢复正常。全外显子组测序结果显示,在COL4A5中发现了一种新的半合子错义致病变异(c.3980G > T (p.G1327V))。重要的是,在先证者的健康女儿中没有发现这种特殊的变异,这强调了它与观察到的临床表现的潜在相关性。结论:我们的研究报告了在一名64岁女性中观察到的一种新表型,其特征是角膜内皮新生血管和青光眼,这与COL4A5变异引起的x连锁Alport综合征有关。这一发现有助于拓宽我们对与COL4A5变异相关的临床异质性的理解。
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来源期刊
CiteScore
3.60
自引率
0.00%
发文量
372
审稿时长
3-8 weeks
期刊介绍: The European Journal of Ophthalmology was founded in 1991 and is issued in print bi-monthly. It publishes only peer-reviewed original research reporting clinical observations and laboratory investigations with clinical relevance focusing on new diagnostic and surgical techniques, instrument and therapy updates, results of clinical trials and research findings.
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