Table 3 Ophthalmic features of all patients with ARL2BP-related retinal dystrophies described in the scientific literature

1

F

Arab-Muslim

c.101-1G > C

HOM

~ 20

NB and VFI

YES (posterior subcapsular)

YES

YES (mild-to-moderate)

YES

Davidson AE et al. [1]

2

M

Arab-Muslim

c.101-1G > C

HOM

~ 20

NB and VFI

NR

YES

NR

YES

Davidson AE et al. [1]

3

M

Arab-Muslim

c.101-1G > C

HOM

~ 20

NB and VFI

NR

YES

NR

YES

Davidson AE et al. [1]

4

M

European

c.134T > G; p.(Met45Arg)

HOM

~ 20

NB

NR

NO

YES (sparse)

NO

Davidson AE et al. [1]

5

F

White

c.390 + 5G > A

HOM

35

SDA and PH

NR

NO

YES (mainly in the nasal retina)

NO but perimacular rings of increased signal in FAF

Fiorentino A et al. [4]

6

M

North African

c.207 + 1G > A

HOM

36

NB

NR

NO

YES (widespread)

YES

Fiorentino A et al. [4]

7

F

North African (Moroccan)

c.207 + 1G > A

HOM

MD

MD

MD

NO

MD

MD

Audo I et al. [5]

8

F

North African (Moroccan)

c.207 + 1G > A

HOM

MD

MD

MD

YES

MD

MD

Audo I et al. [5]

9

M

European (Portuguese)

c.207 + 1G > A

HOM

26

NB and PHT

YES (moderate)

NO (mild ILM thickening)

YES (scarce along the superior vascular arcad)

YES

Moye AR et al. [12]

10

F

European (Portuguese)

c.33_36delGTCT; p.(Phe13Profs*15)

HOM

11

PH

YES (pseudophakic)

NO

YES (scarce, adjacent to the optic nerve head and periphery)

YES (central atrophic lesion)

Moye AR et al. [12]

11

M

Asian (Chinese)

c.22_23delAG; p.(Ser8Leufs*10)

HOM

MD

MD

MD

MD

MD

MD

Zhu T et al. [6]

12

M

European

c.294-1G > C

HOM

~ 20

PH and PHT

YES (mild lens sclerosis)

NO

YES (rare, scattered in mid-periphery)

YES

Placidi G et al.