Spontaneously arrested primary congenital glaucoma.

Abstract

This case report explores a unique instance of primary congenital glaucoma (PCG), where the expected progression was unexpectedly halted without intervention. A 17-year-old female patient presented with diminished vision and left eye exotropia since early childhood. Examination revealed normal right eye vision, but the left eye had significantly reduced visual acuity, manifest exotropia, and megalocornea with Haab striae. Intraocular pressure was within normal range. Anterior segment examination showed prominent iris processes and anterior iris insertion. Fundus examination indicated a healthy optic nerve. Despite initial corneal opacity and megalocornea, there was no current evidence of glaucoma. The diagnosis was spontaneously arrested PCG with amblyopia and sensory exotropia. Genetic analysis revealed a CYP1B1 mutation, emphasizing the variable expressivity associated with this mutation. Regular follow-ups were recommended. This case highlights the complexity and variability of PCG presentations and the need for ongoing monitoring in such cases.