Medical Genetics Clinical features(General) Male predominance: No relation to any X-linked genes Onset Midlife: Mean 30 years, Range 1 to 70 Visual loss Clinical features Painless Visual loss pattern Severity May deteriorate to 20/200 or less Progression: Mean 4 months Interval between eyes affected: N 2 months Tendency to recover depends on mutation Pupillary reactions: May be relatively spared for degree of visual loss Ocular pathology Other features: Some families Cardiac conduction defects Spastic dystonia; Spastic paraparesis, DystoniaMedical Genetics Clinical features (General) Male predominance:No relation to any X-linked genes Onset :Midlife: Mean 30 years; Range 1 to 70 Visual loss – Clinical features • Painless • Visual loss pattern • Severity: May deteriorate to 20/200 or less • Progression: Mean 4 months; • Interval between eyes affected: ~ 2 months • Tendency to recover depends on mutation • Pupillary reactions: May be relatively spared for degree of visual loss – Ocular pathology Other features: Some families Cardiac conduction defects; Spastic dystonia; Spastic paraparesis; Dystonia