Rev Bras Oftalmol.2025;84:e0037
An autosomal dominant optic atrophy: Kjer type
DOI: 10.37039/1982.8551.20250037
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.
