In a recent study, published in the European Journal of Obstetrics & Gynaecology and Reproductive Biology, the authors present a rare case of prenatal ultrasound diagnosis involving multiple ocular malformations: complete cryptophthalmos, congenital aphakia, and corneal vascularization. These conditions, although uncommon, provide critical insights into prenatal screening and diagnosis of foetal abnormalities. The study aims to deepen understanding of ultrasound manifestations, associated systemic malformations, and potential clinical outcomes.
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Case Summary
A 27-year-old pregnant woman, gravida 2, para 1, was referred at 23 weeks’ gestation after her foetus was diagnosed with right renal agenesis at an external hospital. Upon further examination at the hospital, the foetus was found to have a combination of rare ocular malformations—complete cryptophthalmos (where the eyelids fail to form), congenital aphakia (absence of the lens), and corneal vascularization (presence of abnormal blood vessels in the cornea).
Ultrasound Findings
The prenatal ultrasound provided detailed imagery of the foetus, highlighting the absence of lens structures and palpebral fissures (eyelid separation). Additionally, Doppler ultrasound showed small blood flow signals in the cornea, suggesting vascularization. These findings were crucial in forming a comprehensive prenatal diagnosis. Postnatal examination and pathology confirmed the prenatal ultrasound results, showcasing the power of advanced imaging in identifying complex foetal abnormalities.
Discussion
The study emphasizes that foetal ocular malformations like cryptophthalmos and aphakia can co-occur with other systemic malformations, such as renal agenesis. In this case, the malformations also suggested a possible association with genetic mutations, although genetic testing was not performed at the time. Previous literature reviewed in the study shows that such ocular abnormalities are often linked to syndromes like Fraser syndrome, which is characterized by multiple congenital anomalies.
Clinical Significance
The prenatal diagnosis of such conditions allows for informed decision-making by parents and healthcare providers. As the prognosis for these ocular conditions is generally poor—often leading to significant visual impairment or blindness—early detection helps guide both prenatal counselling and potential postnatal interventions. In this case, the family opted for pregnancy termination based on the prognosis and confirmed diagnosis.The case report contributes to the growing body of knowledge about the diagnostic capabilities of prenatal ultrasound for identifying rare congenital eye diseases, which are often linked to other systemic malformations. It also underscores the importance of continued research into the genetic causes of these conditions, as genetic testing could provide further clarity in such complex cases.
Conclusion
This study provides valuable insight into the prenatal diagnosis of rare ocular malformations and highlights the role of ultrasound in early detection. The findings stress the importance of detailed prenatal screening when other abnormalities are detected, which can ultimately lead to a better understanding of fetal development and potential outcomes.
References: Liang B, Kong Y, Luo D, Wen H, Liao Y, Yuan Y, Li S. Prenatal ultrasound diagnosis of complete cryptophthalmos, congenital aphakia, and corneal vascularization in a fetus: A case report and literature review. Eur J Obstet Gynecol Reprod Biol. https://pubmed.ncbi.nlm.nih.gov/39106617/
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