Nearly all patients with disease associated SSBP1mutation suffer from optic atrophy, although many also experience a variety of additional symptoms. Neurological dysfunction relating to the eyes (retinopathy, foveopathy, ptosis, ophthalmoplegia) and ears (sensorineural hearing loss) is common among these patients. In a handful of patients, the multi-system disorders characteristic of mtDNA replication diseases are apparent; kidney disease (nephropathy), musculoskeletal issues (ataxia, growth failure, cardiomyopathy), metabolic strokes, infantile anemia, and other symptoms were reported in some patients. mtDNA depletion was reported in most of the patients, although both mtDNA deletions and depletion were reported in c.3G>A/m.1555A>G patients, only a single large-scale mtDNA deletion (SLSMD) in the c.79G>A patient, and no mtDNA phenotype for the c.422G>A patient.
SSBP1