Thayalan Krishanthy, Kothari Anoushka, Khanna Yash, Kothari Alka
Redlands Hospital Weippin Street Cleveland Queensland 4163 Australia.
Redcliffe Hospital Anzac Avenue Redcliffe Queensland 4020 Australia.
Australas J Ultrasound Med. 2020 Feb 20;23(1):74-79. doi: 10.1002/ajum.12190. eCollection 2020 Feb.
Paediatric cataracts are one of the more common ocular abnormalities that occur in approximately 6 in 10,000 infants and are a major cause of childhood blindness. A suggested pathological mechanism for congenital cataract formation is the abnormal arrangement of lens fibres during embryogenesis. While toxins, chromosomal abnormalities, infections and metabolic disorders account for the majority of the cases, up to 87% of unilateral cataracts remain idiopathic, making disease prevention an ongoing challenge. Early diagnosis and timely referral to ensure effective genetic counselling and postnatal follow-up is paramount to prevent long-term visual consequences. We describe three cases of congenital cataracts with incongruence in antenatal ultrasound findings and postnatal results. Improvement over time in the diagnostic sensitivity of ultrasound allows for early diagnosis of congenital cataracts, yet there is little published evidence regarding the sensitivity and specificity of ultrasound as a diagnostic modality. As congenital cataracts have significant long-term implications if left untreated, such as loss of visual capacity and amblyopia, a targeted ultrasound survey should be performed at morphology scans, with a special focus on the orbital region. This should be extended to those with a significant family history of fetal eye abnormalities and severe malformations. Given the high proportion of idiopathic congenital cataracts, the scope of developing other preventative strategies is limited. Early and accurate diagnosis in the antenatal period may be feasible, by thorough examination of the eyes to detect ocular anomalies, especially in high-risk individuals.
小儿白内障是较常见的眼部异常之一，每10000名婴儿中约有6例发生，是儿童失明的主要原因。先天性白内障形成的一种推测病理机制是胚胎发育过程中晶状体纤维排列异常。虽然毒素、染色体异常、感染和代谢紊乱占大多数病例，但高达87%的单侧白内障病因不明，这使得疾病预防一直是一项挑战。早期诊断并及时转诊以确保有效的遗传咨询和产后随访对于预防长期视觉后果至关重要。我们描述了3例先天性白内障病例，产前超声检查结果与产后结果不一致。随着时间的推移，超声诊断敏感性有所提高，这使得先天性白内障能够早期诊断，但关于超声作为一种诊断方式的敏感性和特异性，几乎没有公开的证据。由于先天性白内障如果不治疗会产生严重的长期影响，如视力丧失和弱视，因此在形态学扫描时应进行针对性的超声检查，特别关注眼眶区域。对于有胎儿眼部异常和严重畸形家族史的患者，也应进行此项检查。鉴于特发性先天性白内障比例较高，制定其他预防策略的空间有限。通过全面检查眼睛以检测眼部异常，在产前进行早期准确诊断可能是可行的，尤其是对高危个体。
