Congenital cataracts – Clinical considerations in ultrasound diagnosis and management

Abstract

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.

The Management of ToRCH Cataract Congenital

“…In prenatal period, there are anamnesis which emphasize the family history and other history such as radiation exposure and maternal infection, subsequently there are laboratory check up such as rubella IgG and PCR. 9 In perinatal period, there is a USG screening to observe the patient eye, and if the cataract USG result is positive, it will continue with supporting examination such as fetal echocardiogram and fetal MRI. 9 This management also do the examination in postnatal period, there are general inspection which continued by anterior victerotomy and primary posterior capsulotomy surgery which planned in first 4 months of baby life.…”

“…9 In perinatal period, there is a USG screening to observe the patient eye, and if the cataract USG result is positive, it will continue with supporting examination such as fetal echocardiogram and fetal MRI. 9 This management also do the examination in postnatal period, there are general inspection which continued by anterior victerotomy and primary posterior capsulotomy surgery which planned in first 4 months of baby life. 9 Meanwhile, the management by Mahalaksmi et al (2010) has some examination such as USG, amniocentesis, fetal blood sampling, and non-spesific IgA and IgM in prenatal period and doing the laboratory examination such as specific Toxoplasma IgA, IgM RV, anti-HSV 1 and anti-HSV 2, and anti-CMV in postnatal period.…”

“…7 Thayalan et al (2020) suggest do an anamnesis to search a history about the pasient, such as history of radiation exposure and family history, then continued with laboratory check up, which are IgG rubella and PCR. 9 This management only emphasize in rubella because based on the preceeding case, there are two of three pasient which has a congential cataract caused by rubella. Meanwhile Mahalakshmi et al (2010) suggest to do a non-spesific IgA and IgM test and also do the USG, amniocentesis, and fetal blood sampling.…”

“…Lee et al (2012) and Thayalan et al (2020) suggest to do the cataract surgery as soon as possible to optimalize the result of the early detection. 6,9 Thayalan et al (2020) has a specific type of surgery, there are anterior victereotomy and primary posterior capsulotomy in first 4 months of the patient. 9 Meanwhile, the other management still do the various laboratory check up.…”

“…6,9 Thayalan et al (2020) has a specific type of surgery, there are anterior victereotomy and primary posterior capsulotomy in first 4 months of the patient. 9 Meanwhile, the other management still do the various laboratory check up. Leung et al (2020) suggest to do a laboratory screening such as toxoplasma IgG, IgM, and IgA from cerebrospinal fluid (CSF), rubella-specific IgM through the placenta blood or baby plasma serum under 6 month, CMV from infant urine's serum, and HSV PCR from peripher specimen.…”