Date Posted: June 9, 2026

Author/s: Carmelita R. Jocson, MD; Manolito R. Reyes, MD, DPBO and Miriam Louella D. Fermin, MD, Rph, DPBO, FPAO

This is a case of a 27-year old female who presented with sudden left eye pain associated with blurring of vision and redness. At a consult done at another institution, patient was given analgesics and underwent plain cranial CT scan with unremarkable results. Worsening of the symptoms prompted patient to seek second opinion at this institution. Ophthalmologic examination showed best corrected visual acuity (BCVA) of 20/40 on the right eye and light perception on the left eye. Intraocular pressure (IOP) was 24 mmHg on the right eye and 42 mmHg after 1 dose of Acetazolamide 250mg. Ocular findings of the left eye revealed narrow palpebral fissure, 6mm pupil non-reactive to light, convex iris, elevated intraocular pressure, and synechial closure on all angles. More than the clinical picture of angle closure glaucoma, the discovery that the patient’s parents were first cousins and her history of high hyperopia since early childhood prompted clinical suspicion of nanophthalmos. Fundus photography, keratometry, ultrasound biomicroscopy, ocular A-scan and B-scan ultrasonography, and optical coherence tomography were all consistent with the diagnosis of angle closure glaucoma secondary to nanophthalmos. Despite being subjected to pressure-lowering agents, the IOP remained uncontrolled and trabeculectomy was done to the left eye. Postoperatively, patient’s IOP was 14 mmHg on the right eye and 18 mmHg on the left. BCVA was noted at 20/40 on the right and 15/400 on the left eye. Having taken into account that history of consanguinity increases risk for genetic disease, especially autosomal recessive diseases, genetic investigation was done. A Microphthalmia/Anophthalmia panel was requested and showed a mutation in the Membrane-type Frizzled-Related Protein (MFRP) gene.

Keywords:
Angle closure glaucoma, nanophthalmos, macular edema