Hallermann-Streiff syndrome with bilateral congenital corneal opacities and potential intrauterine viral infection: a case report and literature review

Hallermann-Streiff syndrome is a rare congenital disorder distinguished by characteristic craniofacial and ocular abnormalities. While cataracts and microphthalmia are classic features, severe bilateral congenital corneal opacities are exceptional. This case report highlights this novel ocular phenotype and examines the diagnostic complexities introduced by a coexisting intrauterine viral infection and congenital glaucoma, clarifying that these rare manifestations are likely coincidental rather than directly causal components of the syndrome. A 6-week-old Chinese female infant presented with severe bilateral congenital corneal opacities and cataracts. Early serology indicated potential intrauterine viral exposure, and next-generation sequencing of a corneal specimen subsequently confirmed the presence of cytomegalovirus sequences. At 5 months of age, the patient underwent penetrating keratoplasty combined with extracapsular cataract extraction in the right eye, which remained aphakic and eventually required a conjunctival flap due to refractory epithelial defects. Conversely, the left eye exhibited spontaneous cataract absorption over time and successfully underwent penetrating keratoplasty at age 4, maintaining a clear graft during a 15-month follow-up. Fundus examination of the left eye revealed a pale, cupped optic disc and choroidal atrophy, while axial length measurements over time suggested coexisting congenital glaucoma. As the patient matured, she developed the classic dysmorphic features defining Hallermann-Streiff syndrome, including a bird-like face, mandibular hypoplasia, dental anomalies, and sparse hair. This case outlines an extraordinary presentation of Hallermann-Streiff syndrome featuring severe bilateral congenital corneal opacities and persistent epithelial defects. Clinical and imaging evidence indicates that these atypical ocular findings are distinct from classic syndromic features and are more likely attributable to a rare, coincidental triadic occurrence of Hallermann-Streiff syndrome, congenital glaucoma, and an active intrauterine cytomegalovirus infection. The presence of intrauterine viral pathogens may further complicate corneal graft healing following keratoplasty.