Congenital cataracts – Clinical considerations in ultrasound
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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.

Case 1

An isolated left‐sided cataract identified from absent red reflex on routine postnatal examination, a common marker of serious ocular pathology requiring immediate referral for ophthalmology review.8 The male baby was born by forceps delivery at 40‐weeks’ gestation for failure to progress, weighing 4130 g. Antenatal history was unremarkable with no significant family history. The morphology scan potentially had a subtle change in the left lens that was in hindsight, not appreciated. The infant underwent an elective left lensectomy at 8 weeks of age and had an uncomplicated postoperative course. Raised intraocular pressure was identified two weeks post‐operatively requiring admission for treatment of aphakic glaucoma, a common complication in patients undergoing cataract surgery in early life.9, 10 This baby had high methylmalonate levels suggesting vitamin B12 deficiency as a potential metabolic cause of the cataract.

Case 2 describes a right‐sided nuclear cataract identified after absent red reflex on postnatal examination. The 37‐week female baby was born by elective caesarean section for placenta previa, with a birthweight of 2580 g, a morphology scan with possible slight increase in echogenicity of the right lens and no significant family history. She underwent a lensectomy and anterior vitrectomy at 6 weeks of age with no complications. No cause of cataract has been identified and remains idiopathic

In conclusion given the high proportion of idiopathic congenital cataracts, the scope of developing other preventative strategies is limited. Therefore, the focus should be placed on early and accurate diagnosis in the antenatal period, with careful ultrasound examination of the eyes to detect ocular anomalies, with a particular focus on high‐risk individuals. Exclusion of genetic syndromes is important, especially in the presence of associated malformations.

Source:https://onlinelibrary.wiley.com/doi/full/10.1002/ajum.12190
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