脆性角膜综合征 2 型先天性青光眼伴有 PRDM5 的新型突变。

IF 1.2 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos Pub Date : 2024-10-01 DOI:10.1016/j.jaapos.2024.104001

Rashmi Krishnamurthy DNB , Sirisha Senthil FRCS , Jeyapoorani Balasubramanian PhD , Muralidhar Ramappa MD

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引用次数: 0

摘要

脆性角膜综合征 2 型与角膜变薄、关节活动过度、牙齿和骨骼问题、骨膜脆性和耳聋有关。我们报告了一名患有新型 PRDM5 基因突变的患者的先天性青光眼与 2 型脆性角膜综合征和角膜病的罕见关联。我们的病例强调了基因检测对早期临床诊断和定制手术方法的重要性。

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Congenital glaucoma in brittle cornea syndrome type 2 with a novel mutation in PRDM5

Brittle cornea syndrome type 2 is associated with corneal thinning, joint hypermobility, dental and skeletal issues, osteal fragility, and deafness. We present a rare association of congenital glaucoma with brittle cornea syndrome type 2 and keratoglobus in a patient with a novel PRDM5 gene mutation. Our case underscores the importance of genetic testing for early clinical diagnosis and tailored surgical approaches.

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来源期刊

Journal of Aapos 医学-小儿科

CiteScore

2.40

自引率

12.50%

发文量

159

审稿时长

55 days

期刊介绍： Journal of AAPOS presents expert information on children''s eye diseases and on strabismus as it affects all age groups. Major articles by leading experts in the field cover clinical and investigative studies, treatments, case reports, surgical techniques, descriptions of instrumentation, current concept reviews, and new diagnostic techniques. The Journal is the official publication of the American Association for Pediatric Ophthalmology and Strabismus.