医学
荧光血管造影
家族史
视网膜脱离
基因检测
视网膜
儿科
眼科
外科
内科学
作者
Mohammed Alotaibi,Amani AlBakri,Sulaiman M. Alsulaiman
出处
期刊:Ophthalmic surgery, lasers & imaging retina
日期:2022-05-01
卷期号:53 (5): 293-296
被引量:2
标识
DOI:10.3928/23258160-20220414-01
摘要
Homozygous protein C deficiency is a rare hypercoagulability disorder. This study describes the ocular manifestations and the genetic background in a family with two affected children. This is a retrospective review of ophthalmic examinations, investigations, genetic testing, and blood work-up of two children with homozygous protein C deficiency from a single family. A family with a positive history of consanguineous marriage was found to have two affected children with homozygous protein C deficiency. Abnormal visual behavior was the presenting symptom. Both children had bilateral total tractional retinal detachments at presentation. Skin manifestations included episodes of discoloration and bruising. Laboratory work-up revealed absent protein C activity. Genetic testing confirmed the presence of a homozygous pathogenic mutation in protein C gene (NM_000312.3: c.1297G>A: p.Gly433Ser). Homozygous protein C deficiency should be considered in the differential diagnosis of early-onset tractional retinal detachment in infancy. Although rare, the ophthalmologist may be the first to encounter the condition, and treatment with protein C replacement or anticoagulants may be life-saving. Examination under anesthesia with fluorescein angiography and laser treatment early in life may be warranted to preserve vision. [Ophthalmic Surg Lasers Imaging Retina. 2022;53:293-296.].
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