Turriff Amy E, Cukras Catherine A, Brooks Brian P, Huryn Laryssa A
National Eye Institute, National Institutes of Health, Bethesda, Maryland.
National Eye Institute, National Institutes of Health, Bethesda, Maryland.
J AAPOS. 2019 Jun;23(3):163-165.e1. doi: 10.1016/j.jaapos.2019.01.008. Epub 2019 Feb 12.
Multi-gene panel testing is used increasingly in ophthalmology practice as an efficient and cost-effective method for diagnosing inherited eye conditions. Panel testing is a powerful diagnostic tool, and it has the potential to reveal syndromic information in patients with seemingly isolated eye findings. This case series highlights our experience with 4 children in 3 families who were referred for evaluation of an isolated retinal degeneration and diagnosed with neuronal ceroid lipofuscinosis on panel testing. These cases are important reminders that several neurodegenerative conditions can present initially with isolated eye findings in childhood and pretest genetic counseling is critical.
多基因检测面板在眼科实践中越来越多地被用作诊断遗传性眼病的一种高效且具成本效益的方法。检测面板是一种强大的诊断工具，它有可能在看似仅有眼部症状的患者中揭示综合征信息。本病例系列突出了我们对3个家庭中4名儿童的诊疗经验，这些儿童因孤立性视网膜变性前来评估，并通过检测面板诊断为神经元蜡样脂褐质沉积症。这些病例有力地提醒我们，几种神经退行性疾病在儿童期最初可能仅表现为孤立的眼部症状，检测前的遗传咨询至关重要。
