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 […]

The optic neuropathy of Kjer, or dominant optic atrophy, is the most common among optic neuropathies. iI is an optical atrophy of dominant autosomal character that is caused by an alteration in the gene on chromosome 3q28 with OPA1 penetration of 98% Only 15% of cases have visual acuity of 0.1 or worse, while demonstrating different grades of atrophy of the disc. This report aims to describe the genetic and clinical characteristics, and methods of family counseling through the presentation […]