全世界每年有20,000-40,000患有先天性或儿童期白内障的儿童出生时都有不同程度和模式的晶状体混浊,病因广泛。在大多数双侧白内障病例中,可以识别出致病的基因突变,常染色体显性遗传在44%的病例中最常见。基因变异涉及晶状体特异性蛋白或调节眼睛发育的蛋白,从而引起其他相关的眼部异常。大约15%的病例有全身特征,因此,儿科投入对于减少合并症和支持视力障碍高风险儿童的整体发育至关重要。在某些代谢条件下,先天性白内障可能是先兆,因此,在有可用治疗的地方,及时诊断是很重要的。对儿童的多学科管理至关重要,包括眼外科医生,骨科医师,儿科医生,遗传学家和遗传顾问,并应超越医疗团队,包括学校和当地儿科视觉支持服务。眼科早期手术和密切随访对于优化视觉潜能和预防弱视非常重要。常规基因检测对于患者的完整临床管理至关重要,115个基因的下一代测序显示可加快分子诊断,简化护理途径,并为将来的遗传咨询和生殖选择提供信息。
■儿童白内障:如何管理患者白内障是眼睛晶状体的混浊。儿童白内障有许多不同的原因,其中可能包括在怀孕期间从母亲传给孩子的感染,创伤,药物和辐射暴露。在大多数情况下,双眼发生白内障,可以发现遗传原因,可能是从父母那里遗传的,或者在子宫内发育中的婴儿本身偶尔发生。白内障可能自己发生,患有其他眼部疾病或作为综合征的一部分存在于体内其他疾病。基因检测对所有患有白内障的儿童都很重要,因为它可以提供有关病因的有价值的信息,遗传和进一步的孩子的风险,并在身体其他部位预示疾病的任何其他特征,允许组装正确的多学科护理团队。目前,基因检测涉及筛查已知导致白内障的115个基因的突变,并已被证明可以加快诊断并帮助更好地管理儿童。遗传咨询服务可以帮助家庭了解他们的诊断,并为未来的计划生育提供信息。为了优化视觉,早期手术治疗儿童白内障很重要。这是因为大脑仍在发育,光到达眼睛后部的通畅通道是正常视觉发育所必需的。任何阻塞(如白内障)如果不及时治疗可能导致永久性视力障碍或失明。即使它稍后被删除。参与白内障患儿护理的多学科团队应包括眼外科医生,骨科医师,儿科医生,遗传学家和遗传顾问,并应超越医疗团队,包括学校和当地儿童视觉支持服务。它们将有助于诊断和管理系统性疾病,优化视力潜力,帮助患者及其家人获得最佳的支持治疗。
Worldwide 20,000-40,000 children with congenital or childhood cataract are born every year with varying degrees and patterns of lens opacification with a broad aetiology. In most cases of bilateral cataract, a causative genetic mutation can be identified, with autosomal dominant inheritance being most common in 44% of cases. Variants in genes involve lens-specific proteins or those that regulate eye development, thus giving rise to other associated ocular abnormalities. Approximately 15% of cases have systemic features, hence paediatric input is essential to minimise comorbidities and support overall development of children at high risk of visual impairment. In some metabolic conditions, congenital cataract may be the presenting sign, and therefore prompt diagnosis is important where there is an available treatment. Multidisciplinary management of children is essential, including ophthalmic surgeons, orthoptists, paediatricians, geneticists and genetic counsellors, and should extend beyond the medical team to include school and local paediatric visual support services. Early surgery and close follow up in ophthalmology is important to optimise visual potential and prevent amblyopia. Routine genetic testing is essential for the complete clinical management of patients, with next-generation sequencing of 115 genes shown to expedite molecular diagnosis, streamline care pathways and inform genetic counselling and reproductive options for the future.
UNASSIGNED: Childhood cataract: how to manage patients Cataract is a clouding of the lens in the eye. Cataract occurring in children has many different causes, which may include infections passed from mother to child during pregnancy, trauma, medications and exposure to radiation. In most cases of cataract occurring in both eyes, a genetic cause can be found which may be inherited from parents or occur sporadically in the developing baby itself while in the womb. Cataracts may occur on their own, with other eye conditions or be present with other disorders in the body as part of a syndrome. Genetic testing is important for all children with cataract as it can provide valuable information about cause, inheritance and risk to further children and signpost any other features of the disease in the rest of the body, permitting the assembly of the correct multidisciplinary care team. Genetic testing currently involves screening for mutations in 115 genes already known to cause cataract and has been shown to expedite diagnosis and help better manage children. Genetic counselling services can support families in understanding their diagnosis and inform future family planning. In order to optimise vision, early surgery for cataract in children is important. This is because the brain is still developing and an unobstructed pathway for light to reach the back of the eye is required for normal visual development. Any obstruction (such as cataract) if left untreated may lead to permanent sight impairment or blindness, even if it is removed later. A multidisciplinary team involved in the care of a child with cataract should include ophthalmic surgeons, orthoptists, paediatricians, geneticists and genetic counsellors, and should extend beyond the medical team to include school and local child visual support services. They will help to diagnose and manage systemic conditions, optimise vision potential and help patients and their families access best supportive care.