CHARGE Syndrome Associated With Persistent Hyperplastic Primary Vitreous: A Case Report.

BACKGROUND

CHARGE syndrome is a rare genetic disorder caused primarily by CHD7 mutations, affecting multiple organs, including the eyes, heart, and ears. Ocular abnormalities are common, but bilateral persistent fetal vasculature (PFV) has not been previously reported in CHARGE syndrome. PFV results from the failure of the fetal hyaloid vasculature to regress, typically affecting one eye.

CASE PRESENTATION: We report a 10-month-old female with bilateral PFV associated with CHARGE syndrome, confirmed by a de novo CHD7 mutation. Systemic evaluation revealed sensorineural hearing loss and congenital cardiac defects. The patient subsequently underwent cataract extraction and intraocular lens implantation in the left eye. Postoperatively, a partial improvement in esotropia was observed.

CONCLUSIONS

This case represents the first documented instance of bilateral PFV in CHARGE syndrome. It expands the known ocular manifestations of the syndrome and underscores the importance of early genetic diagnosis and multidisciplinary care to optimize patient outcomes.