New missense variants of single-stranded DNA-binding protein 1 gene associated with optic atrophy

Takeaway

  • Heterozygous missense variants in the single-stranded DNA-binding protein 1 gene (SSBP1) were linked to mitochondrial-related optic neuropathy.

Why this matters

    Mutations in the optic atrophy 1 gene (OPA1) are known to cause autosomal dominant optic atrophy (ADOA), but in many instances the genetic cause of ADOA remains unknown. This study identified three genetic variants in SSBP1 that can cause ADOA.