congenital and stationary retinal disease < RETINA

  • 文章类型: Case Reports
    背景:先天性动脉乳头周围环是罕见的实体,文献中描述的病例很少。
    方法:一名25岁的亚裔男性左眼(LE)出现弥漫性玻璃体出血。OCT-A显示视神经乳头存在双侧血管环。荧光素血管造影(FA)证实了双眼的血管异常,早期动脉充盈,无染料渗漏。在二十天的随访中,LE的玻璃体出血完全重新吸收,BCVA从20/63改善到20/20。
    结论:玻璃体出血的鉴别诊断应考虑先天性乳头周围环,特别是在没有眼/头部外伤史的年轻患者中。强烈建议多模态成像以正确管理患者,避免不必要的治疗选择。
    BACKGROUND: Congenital arterial peripapillary loops are rare entities and very few cases are described in literature.
    METHODS: A 25-year-old Asian man presented a diffuse vitreous hemorrhage in his Left Eye (LE). OCT-A revealed the presence of bilateral vascular loops at the optic nerve head. Fluorescein angiography (FA) confirmed the vascular abnormality in both eyes, with arterial filling in early phases and no dye leakage. At twenty days of follow up, the vitreous hemorrhage in the LE completely reabsorbed and BCVA improved from 20/63 to 20/20.
    CONCLUSIONS: Congenital peripapillary loops should be considered in the differential diagnosis of vitreous hemorrhage, especially in young patients with no history of ocular/head trauma. Multimodal imaging is highly recommended to properly manage the patients, avoiding unnecessary therapeutic choices.
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  • 文章类型: Journal Article
    背景:文献中已经提到自闭症谱系障碍(ASD)与视力障碍之间的关联。我们研究的目的是调查白化病儿童中自闭症的患病率与其他原因继发视力障碍儿童中ASD的患病率。
    方法:2015年1月至2020年12月对白化病儿童进行回顾性研究。对照组是由视力范围和年龄相似的早发性视力障碍儿童创建的,继发于白化病以外的诊断。在两组中都确定了相关自闭症患者。
    结果:7108名1-18岁视力障碍儿童被纳入研究。401名儿童被诊断为白化病,其中14人也被诊断为ASD。在对照组中,由307名患者组成,只有3人患有ASD(p:0·03)。
    结论:白化病患者中ASD的患病率为1/28,而其他原因导致视力障碍的儿童中ASD的患病率为1/102。我们旨在提高对被诊断为白化病的儿童自闭症患病率较高的认识,以便早期诊断和支持。
    BACKGROUND: The association between Autism spectrum disorders (ASD) and visual impairment has been mentioned in the literature. The aim of our study was to investigate the prevalence of autism among children with albinism compared to the prevalence of ASD in children with visual impairment secondary to other causes.
    METHODS: Retrospective study of children with albinism from January 2015 to December 2020. A control group was created with children with early onset visual impairment of similar visual range and age, secondary to diagnosis other than albinism. Patients with associated Autism were identified in both groups.
    RESULTS: Seven hundred and eight children aged 1-18 years with visual impairment were included in the study. 401 children had a diagnosis of albinism, of whom 14 were also diagnosed with ASD. In the control group, composed of 307 patients, only 3 had ASD (p: 0·03).
    CONCLUSIONS: The prevalence of ASD in patients with albinism was 1 in 28, while in children with visual impairment from other causes was 1 in 102. We aim to raise awareness of the higher prevalence of autism in children diagnosed with albinism in order to reach earlier diagnosis and support.
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