MTHFR C677T homozygous mutation in a patient with pigmentary glaucoma and central retinal vein occlusion

We present the rare case of a young male patient with asymmetric ocular findings: pigmentary ocular hypertension associated with nonischemic central retinal vein occlusion (CRVO) in the right eye and pigmentary glaucoma (PG) with progressive glaucomatous optic damage in the left eye.

A 31-year-old man showed nonischemic CRVO in the right eye and the clinical triad of pigment dispersion syndrome in both eyes, however more marked in the left eye. Best-corrected visual acuity was logMAR 0.3 in the right eye and 1.0 in the left eye at presentation. The single risk for developing PG and CRVO was hyperhomocysteinemia. The patient was a carrier of the methylenetetrahydrofolate reductase C677 homozygous mutation.

At 18 months of follow-up, visual acuity remained stable, intraocular pressure was in the normal range, but retinal tomography indicated an increase in glaucomatous optic damage to the nerve fiber layer in almost the complete temporal-inferior sector of the left eye, but without visual field defects in the left eye. Retinal tomography and automated perimetry were normal in the right eye. The patient received topical antiglaucomatous therapy.

Higher levels of plasma homocysteine, even mildly elevated ones, could be associated with nonischemic CRVO and PG, especially when related to genetic risk factors or C677T mutation.