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Table 1 Clinical characteristics of the ADOA patients in the study

From: Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype–phenotype correlation analysis

Patient

Sex

Onset Age (y)

Age at

Diagnosis (y)

BCVA (OD/OS)

ONH

RNFL (OD/OS)

VF

VEP

Brain

MRI

F1-I:1

M

NA

64

0.05/0.01

TP

TT

CS

NA

NA

F1-II:3

F

NA

34

0.4/0.2

TP

TT

CS

NA

NA

F1-III:3

M

5

5

0.5/0.5

DP

DT

NA

NA

N

F2-I:1

M

NA

42

1.0/1.0

N

N

NA

NA

NA

F2-II:2

F

7

7

0.2/0.2

DP

DT

CS

PL

N

F3-II:2

M

NA

33

0.25/0.3

TP

TT

NA

NA

NA

F3-III:3

M

6

6

0.25/0.25

TP

TT

NA

NA

NA

F4-III:1

F

10

10

0.3/0.25

TP

NA

NA

NA

NA

F5-III:1

M

NA

35

0.5/0.5

TP

NA

NA

NA

NA

F5-IV:1

M

8

11

0.3/0.2

TP

TT

CS, PS

PL, DA

NA

F6-II:2

F

7

12

0.2/0.2

TP

TT

CS

DA

N

F7-III:3

M

24

24

0.2/0.25

TP

TT

S↓

DA

NA

F8-I:1

M

NA

36

1.0/1.0

N

NA

NA

NA

NA

F8-II:1

M

5

7

0.1/0.1

TP

NA

S↓

NA

N

F9-III:3

F

3

33

0.12/0.12

TP

TT

NA

NA

NA

F9-IV:2

F

5

6

0.25/0.15

TP

TT

NA

PL, DA

NA

F10-III:1

F

12

35

0.4/0.4

TP

TT

NA

NA

NA

F10-III:3

F

NA

29

0.3/0.4

TP

TT

NA

NA

NA

F10-IV:1

M

5

5

0.5/0.4

TP

TT

NA

NA

N

F11-II:2

F

3

29

0.01/FC

TP

TT

TH

PL, DA

N

F11-III:1

F

3

4

NA

TP

TT

NA

NA

NA

  1. BCVA best corrected visual acuity, ONH optic nerve head, RNFL retinal nerve fiber layer, VF visual field, VEP visual evoked potential, MRI magnetic resonance imaging, M male, F female, NA not available, TP temporal pallor, DP diffuse pallor, DT diffuse thinning, TT temporal thinning, CS central scotoma, PS paracentral scotoma, S sensitivity, TH temporal hemianopsia, PL prolonged latencies, DA diminished amplitudes, N normal