Retinal dimples in a case of adult-onset methylmalonic acidemia with homocystinuria: A new finding.

PURPOSE: To describe the ophthalmic clinical manifestations in a woman with adult-onset methylmalonic acidemia with homocystinuria, including retinal dimples as a new retinal finding.

METHODS

Observational case report of a 25-year-old woman. Clinical manifestations and diagnostic tests are described.

RESULTS

Methylmalonic acidemia with homocystinuria is a multisystem disease, severe and occasionally lethal, with a wide clinical spectrum ranging from fetal/neonatal disease to a benign disorder starting in adulthood. The patient in this report was referred for a routine evaluation. Retinal photography, fluorescein angiography, optical coherence tomography (OCT), en-face OCT angiography, visual fields, and electroretinography were performed. OCT, including en-face mode, revealed retinal dimples, a finding not previously described. Retinal dimples corresponded to OCT angiography flow deficits at the level of the deep vascular plexus.

CONCLUSIONS

Retinal dimples might be a consequence of retinal ischemia secondary to microangiopathic disease. Ocular findings remained stable during the 4-year follow-up.