Recessive Optic Atrophy
Recessive optic atrophy is characterized by severe bilateral vision loss before 5 years of age, often associated with nystagmus. Wolfram syndrome is optic atrophy caused by biallelic mutations in WFS1, with variable expressivity of hearing loss and diabetes mellitus. Similarly, Behr optic atrophy is caused by biallelic mutations in OPA1, with variable expressivity of neurologic findings such as ataxia, pyramidal signs, spasticity, bladder dysfunction, and intellectual disability.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.