Severe bilateral ocular coloboma and microphthalmia in a neonate with WDR37-associated neurooculocardiogenitourinary syndrome.

We describe a neonate with severe bilateral ocular abnormalities associated with WDR37-related neurooculocardiogenitourinary syndrome. Ocular findings identified at birth included bilateral microphthalmia, microcornea, corneal edema, marked anterior segment dysgenesis, and bilateral colobomatous posterior pole abnormalities. The patient also had multiple systemic anomalies, including complex congenital heart disease, renal dysplasia, skeletal abnormalities, and cerebellar malformation. Clinical exome sequencing identified a de novo pathogenic variant in the WDR37 gene, confirming the diagnosis. This case is notable for the severity and very early neonatal presentation of ocular involvement and further illustrates the phenotypic variability of WDR37-associated disease. Early ophthalmologic evaluation in neonates with multisystem congenital anomalies may provide important diagnostic clues to rare genetic syndromes.