Fig 1.
Flowchart of the retrospective study.
Patients were referred for genetic testing after extensive workup by referring specialists.
Fig 2.
Variant identification and classification of ninety-seven patients sent for NGS.
(A) PEO/Optic Atrophy nuclear panel results (N = 94). (B) mtDNA results (N = 81). (C) Frequency of patients with a definitive positive molecular diagnosis with causative nuclear gene.
Fig 3.
Positive predictive value of a genetic test result in patients with a positive or negative family history of optic atrophy.
Of those that reported a positive family history, 10/30 (33.3%) patients had a positive genetic test result. Of those with a negative family history, 9/67 (13.4%) had a positive genetic test result (OR, 1.20–9.02; *, p = 0.011; CI = 95%).
Fig 4.
Relationship between excessive ethanol use or smoking and the detection of a likely pathogenic or pathogenic variant.
(A) Percentage of patients who have a likely pathogenic or pathogenic variant given that they are excessive drinkers or are not excessive drinkers. Patients that report excessive ethanol consumption have a lower chance of possessing a positive genetic variant, whereas those that do not excessively drink have a higher positive detection rate (24.4%) (OR, 0–0.70; *, p = 0.016; CI = 95%). (B) Percentage of patients who reported to have smoked in the past/currently or have never smoked that have a likely pathogenic or pathogenic variant (OR, 0.29–2.78; p = 0.829; CI = 95%).
Fig 5.
Comparison of patients with drinking or smoking history in relation to performance on vibration sensation test.
(A) Percentage of patients that drink or do not drink who have abnormal vibration sensation (OR, 1.02–8.68; *, p = 0.026; CI = 95%). (B) Percentage of patients that smoke or do not smoke who have an abnormal vibration sensation (OR, 0.80–6.06; p = 0.074; CI = 95%).
Table 1.
Positive genetic testing of recessive variants likely to explain the OA phenotype.