Childhood Blindness: A Rare Case of Leber Hereditary Optic Neuropathy in a 16-Year-Old Egyptian Patient

Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial genetic disorder that is rarely encountered in daily clinical practice. It presents by an acute or subacute onset and a progressive course of painless, bilateral, sequential severe loss of vision, mostly seen in young males. Mutations in the mitochondrial DNA in these patients lead to dysfunction at complex I of the respiratory chain, causing a selective degeneration of the retinal ganglion cells and predisposition toward the development of the clinical symptoms. LHON can mimic other ophthalmological disorders, making it a commonly misdiagnosed and mismanaged disease. Management of LHON remains mainly supportive, as a definitive cure for this condition is yet to be developed. In this case report we describe the disease progression encountered in a 16-year-old Egyptian male patient diagnosed with LHON, highlight the difficulties encountered in diagnosing and managing this case, and review the literature on LHON.