An autosomal dominant optic atrophy: Kjer type

Abstract

ABSTRACT We present a case of an autosomal dominant optic neuropathy, known as Kjer's disease. The condition can manifest since childhood, presenting with bilateral symmetric optic atrophy and progressive vision loss. Genetics play a crucial role in the differential diagnosis, due to the association with the OPA-1 gene. In this report, we describe the case of a young vegan woman, initially diagnosed with optic neuropathy due to nutritional deficiency, but with laboratory tests within normal limits and a significant family history with the same findings as the patient. This case underscores the importance of comprehensive ophthalmic and genetic evaluation in patients presenting with familial patterns of vision loss.

Keywords

• Optic atrophy, autosomal dominant
• Diagnosis differential
• Optic nerve diseases
• Vision disorders
• Blindness
• Kjer
• OPA-1