Leber's Hereditary Optic Neuropathy
A patient came to ED due to subacute decreased vision in his right eye since 1/2023. He had a history of decreased vision in his left eye following phacoemulsification surgery in Oct 2022. BCVA was 20/70 OD and 20/400 OS Past medical history was positive for HTN, hyperlipidemia. Past ocular history was POAG OU and cataract surgery OS. Social History was positive for alcohol use (3-4 beers/day). Family history was positive for subacute visual loss in his maternal cousin. On fundoscopic exam there was trace optic nerve pallor in the right eye and 1+ pallor in the left eye. HVF showed cecocentral scotoma in both eyes. GCL thickness was decreased in the left eye. Brain and orbital MRI was unrevealing except for an old lacunar infarct at the inferior basal aspect of the left cerebellar hemisphere. Lab tests including MOG, NMO, RPR, FTA-ABS, Quantiferon, ACE, and ANA were negative. Patient was homoplasmic (99.9%) for MT- ND4 m.11778G> A variant which is pathogenic. He was diagnosed as having Leber’s Hereditary Optic Neuropathy (LHON) and Idebenone was started at 900 mg daily.
Presentation Date: 05/04/2023
Issue Date: 05/26/2023
Please log in or click on ENROLL ME to access this course.
