Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases

Table 3

Demographic and clinical data of all subjects.

Case no.

Age (y)/sex

BCVA

Cyclorefraction

Arden ratio

ERG

Thick choroid

Retinal schisis unrelated to CNV/involved layers

Subretinal hyporeflective space in fovea in OCT

ACG treatment

CNV

Fine peripheral leakage in FA

Genetically proven

1

20/F

2/10; 1/10

+2.00–2.5 × 100; +3.00–2.5  × 75

101; 107

NL

OU

OU/INL > ONL

OU

+(Surgical PI OU/TBX OU × 2/AGV OD)

—

—

—

2

27/M

6/10; 8/10

+2.00–1.00 × 90; +2.50–1.50 × 85

112; 113

NL

OU

OU/INL

OU

+Zilomole-brimonidine-latanoprost OU/laser PI OU

OD, IVB × 1

—

—

3

25/M

5/10; 2/10

−0.5−0.5  × 180; P−0.75 × 30

118; 115

NL

—

OU/INL

OU

—

OU, IVB × 3

—

—

4

12/F

7/10; 3/10

+4.5–0.5  × 50; +5.00–0.5  × 110

102; 102

NL

OU

OU/INL

OU

—

- (Subfoveal scar in OS compatible with fibrotic pillar)

—

+

5

14/M

5/10; 5/10

P-0.75  × 10; +0.50–1.5 × 90

111; 107

NL

_

OU/INL

OU

—

-(Old subfoveal scar in OD)

—

—

6

11/F

6/10; 4/10

+4.75–0.25 × 90; +5.75–0.5 × 90

107; 102

NL

OU/severe

OU/INL > ONL

OU

—

—

—

7

6.5/F

8/1; 4/10

+7.5–1.00  × 30; +7.251.00 × 150

NA due to poor cooperation

NL

OU

OU/ INL > ONL

OU

—

—

NA

8

16/F

4/10; 7/10

+1.00–1.00 × 5; +1.25–0.75 × 175

103; 103

Mildly reduced photopic and scotopic responses

OU, severe

OU/INL

OU

—

—

—

—

9

30/M

1/10; 3/10

+1.00; +1.00–0.5  × 180

168; 170

Moderately reduced photopic responses

—

OU/INL, ONL; CME like pattern

—

—

—

+

—

10

34/M

5/10; 6/10

+2.75–0.5 × 90; +2.25–0.75× 90

113; 108

NL

—

—

OU

—

—

—

—

11

10/F

7/10; 6/10

+2.75–0.5  × 180; +2.5–1.00 × 180

101; 103

NL

—

OU, INL

OU

—

—

—

+

12

33/M

6/10; 5/10

+1.75–1.25 × 10; +2.00–0.75 × 170

103; 107

NL

OU

OU, INL

OU

—

—

—

—

13

35/F

6/10; 6/100

+2.75; +1.00

111; 106

NL

OU, severe

OU, INL > ONL

OU

+ (Laser PI, OU/cataract surgery OU/ zilomole-brimonidine-latanoprost OU)

—

—

—

14

4/M

Poor cooperation

+5.00–1.5 × 20; +5.5–0.75 × 180

NA due to poor cooperation

NA

NA

OU, INL

OU

—

-(OS: subfoveal fibrosis)

NA

—

15

7/M

1/10; 7/10

+4.75; +4.5–0.5 × 180

NA due to poor cooperation

NA

OU

OU/INL, ONL

OU

—

_ ((Subfoveal scar in OD compatible with fibrotic pillar)

NA

—

16

14/F

8/10; 8/10

+4.75–0.75 × 180; +4.00

NA due to poor cooperation

Mildly reduced responses

OU

OU/INL, ONL

OU

—

—

NA

—

17

32/M

2/10; 2/10

+2.75–0.75 × 180; +2.50

108; 112

NL

OU, severe

OU/INL, ONL

OU

+ (OU/latanoprost)

—

+

+

18

28/F

10/10; 6/10

+1.5–0.25 × 60; +1.50

132; 115

Mildly reduced responses

OU, severe

OU/INL, ONL

OU

+ (OU/laser PI)

—

+

+

19

26/F

5/10; 10/10

+0.75–1.25×10; +0.5–0.75×180

176; 189

Near-normal responses

OU

OU/INL, ONL

OU

—

—

+

+

20

7/F

6/10; 6/10

+5.75–1.25 × 10; +5.75–1 × 170

NA due to poor cooperation

NL

OU, severe

OU. INL

OU

—

—

NA

+

21

12/M

2/10; 4/10

+3.50–3.00 × 170; +2.75–2.00 × 170

110; 124

NL

OU

OU/INL, ONL

OU

—

_ (Subfoveal scar in OD compatible with fibrotic pillar)

—

+

22

5/F

7/10; 6/10

+4.5; +4.25–0.75 × 60

NA due to poor cooperation

NL

OU

OU, INL

OU

—

—

NA

+

23

11/F

7/10; 5/10

+3.50–3.00 × 180; +2.75–1.25 × 180

121; 117

NL

OU

OU/INL, ONL

OU

+ (OU/timolol)

—

—

+

24

27/M

5/10; 5/10

+1.50–0.75 × 180; +1.5–0.5 × 180

108; 105

Mildly reduced responses

OU

OU/INL, ONL

OU

—

—

—

+

BCVA: best-corrected visual acuity; OU: both eyes; ACG: angle-closure glaucoma; PI: peripheral iridotomy; TBX: trabeculectomy; IOP: intraocular pressure; OCT: optical coherence tomography; INL: inner nuclear layer; ONL: outer nuclear layer; CME: cystoid macular edema; FA: fluorescein angiography; ERG: electroretinogram; NL: normal; NA: not available; F: female; M: male; CNV: choroidal neovascularization.