Dominant Optic Atrophy: A Teenager with Progressive Painless Vision Loss

Abstract

A 15-year-old Puerto Rican girl presented with a history of poor vision that could not be corrected with glasses. She was first evaluated by an eye doctor in Puerto Rico at the age of 7 who prescribed glasses with regular follow-up. Approximately 2 years prior to her presentation, the patient noticed a decline in vision in both eyes that has gradually worsened. She was evaluated by a comprehensive ophthalmologist, who was unable to correct her visual acuity with a manifest refraction and noted optic disc pallor on examination. She was otherwise healthy and a high school freshman. She did not smoke, drink alcohol, or use drugs. Her family history was remarkable for a maternal grandmother with a history of diabetes mellitus with retinopathy, but upon further questioning, there was some suspicion that the grandmother’s visual loss may have begun in early adulthood prior to the onset of diabetes. Her complete review of systems was negative, including hearing loss, pain/headache, galactorrhea, dysmenorrhea, gastrointestinal dysregulation, dietary restrictions, or toxic exposures.