Rithika Sriram, Yashasvi Shukla, Laura L. Hayes, Vinay Kandula
SUMMARY:
This 2-part pictorial review illustrates the spectrum of ocular abnormalities in pediatric imaging and highlights their diagnostic and prognostic implications. Part 1 focuses on globe and lens abnormalities, including the microphthalmos-anophthalmos-coloboma (MAC) complex, macrophthalmos, congenital cataracts, and lens dislocation. Part 2 covers posterior segment and optic pathway abnormalities, ranging from persistent fetal vasculature to optic nerve pathologies. Selected cases demonstrate key associated brain and spine imaging features, syndromic associations, and prognostic significance, showing how orbital imaging can guide targeted genetic testing, improve diagnostic accuracy, and differentiate overlapping conditions. By systematically evaluating the orbits on pediatric brain MRI, radiologists can identify genetic disorders and syndromes early, support clinical and genetic assessment, and improve patient care. Abbreviations
CHARGE: coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness CIMDAG: cerebellar hypoplasia and cataracts, intellectual disability, congenital microcephaly, dystonia and dyserythropoietic anemia, and growth retardation CS: Cockayne syndrome COACH syndrome: cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, hepatic fibrosis ECCL: encephalocraniocutaneous lipomatosis FCMD: Fukuyama congenital muscular dystrophy JS: Joubert syndrome MAC: microphthalmos-anophthalmos-coloboma MEB: muscle-eye-brain disease MGDA: morning glory disc anomaly OAVS: oculo-auriculo-vertebral spectrum OCCS: oculocerebrocutaneous syndrome PBS: Poretti-Boltshauser syndrome TORCH: toxoplasmosis, other agents (such as HIV, syphilis, and Zika), rubella, cytomegalovirus, and herpes simplex virus WMS: Weill-Marchesani syndrome WWS: Walker-Warburg syndrome