Prenatal Diagnosis of Ocular Anomalies

Introduction: The eye is a highly complex structure comprised of varied specialized cells and tissues which perform a myriad of functions, inclusive of movement, tear production and converting light into electrical signals for the CNS. With such a degree of specialization, there exists the potential for susceptibility to a wide range of diseases. Assessment of the fetal eye can therefore play a salient role in identifying systemic maladies. Fetal orbits and lenses can be identified by ultrasound as early as 14 weeks. While some congenital anomalies can be identified during this early gestational age, most are commonly identified in the late second and early third trimester. By detecting these anomalies early, utilizing prenatal imaging, the family and health care providers can plan for optimal medical care.

Case Report: An 18 year old Hispanic female presented as a late registrant for prenatal care at 23^4/7 weeks gestation. Family, medical and surgical histories were unremarkable. NIPT screen was negative for aneuploidy. Patient denied any foreign travel.

Anatomical survey was performed which revealed bilateral echogenic foci in both eyes—suspicious for congenital cataracts. TORCH Parvovirus and ZIKA analysis was undertaken with negative results. Patient had Genetic counseling- declined amniocentesis. Fetal echocardiogram was deemed normal. Patient was referred for MRI evaluation which will be undertaken at 28 weeks of gestation.

Discussion: Congenital ocular malformations are uncommon entities. The primary tools utilized for diagnosis is ultrasound in conjunction with magnetic resonance imaging (MRI). Fetal MRI added within the diagnostic armamentarium is paramount in detecting cerebral and general anomalies; in addition it can give detailed information on the size and morphology of the eyeball. The full evaluation of ocular anomalies includes a detailed family/maternal/travel history, genetic amniocentesis for karyotype, fetal echocardiogram, and other analyses for infectious etiologies (inclusive of TORCH, Parvovirus, ZIKA). These serve to aid in a better understanding and correlation of the radiologic evaluation. In such cases, care is individualized and multiple specialists may need to be engaged. With severe malformations, termination of pregnancy must be proposed due to the risk of blindness and associated systemic or cerebral malformations. Early prenatal diagnosis of ocular malformations additionally are of paramount importance as some entities like congenital cataracts require surgical interventions shortly post birth; while other syndromes may require continued assessment by Pediatric ocular specialists well into childhood and beyond.

Fig. 1 Lenses noted bilaterally.

Fig. 2 Echogenic foci in eyes bilaterally

Fig. 3 Echogenic foci in eyes bilaterally

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
17 September 2021