Skip to main content

Table 1 Clinical findings of the investigated family members

From: Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family

Genetic ID, status

Age

Refractive error: SE (dioptres)

BCVA o.d. o.s

AL (mm)

fundus appearance

OCT

Visual field (VF) (both eyes)

IOP (Hgmm)

Colour vision (both eyes)

III/3-carrier

32

E/E

20/20

20/32

 

META-PM0: normal retina

Normal retina

Nasal loss to 30°

21/20

Lanthony D-15: diffuse colour discrimination error

IV/1-affected

14

 − 8/ − 8

20/32

20/32

26.34 / 26.24

META-PM1: tesselated retina

Mildly thinner sensory retina

Normal

12/15

Lanthony D-15: diffuse colour discrimination error

IV/2-affected

10

 − 6/ − 4

20/25

20/20

 

META-PM0: normal retina

Normal retina

Normal

15/13

Lanthony D-15: diffuse colour discrimination error

IV/6-affected

21

 − 23/ − 19

20/50

20/50

30.12 / 29.81

META-PM2:

 Diffuse chorioretinal atrophy

 Peripapillary atrophy

Incipient atrophic sensory retina

Nasal 10° loss (+ superior artefact)

20/19

ISIHARA: neg

IV/7-affected

20

 − 13/ − 9.5

20/100

20/40

27.45 / 26.1

META-PM2:

 diffuse chorioretinal atrophy

 peripapillary atrophy

Incipient atrophic sensory retina

Nasal 10° loss

17/19

ISIHARA: neg

III/8-affected

48

 − 14/ − 7

20/500

20/100

 

META-PM1-2:

 tesselated retina, incipient diffuse chorioretinal atrophy

 pale, ONH with peripapillary atrophy

Incipient atrophic sensory retina

Generalized constriction

23/21

Lanthony D-15: diffuse colour discrimination error

IV/10-affected

28

 − 12.5/ − 14.5

20/63

20/125

27.02 / 26.97

META-PM1-2:

 tesselated retina, incipient diffuse chorioretinal atrophy

 peripapillary atrophy

Incipient atrophic sensory retina

Nasal 10° loss (+ superior artefact)

19/20

Lanthony D-15: diffuse colour discrimination error

V/6-healthy control

10

E/E

20/20

20/20

 

Normal

Normal

Normal

17/15

ISIHARA: errors made (Father has similar CVD)

  1. AL axial length, BCVA best corrected visual acuities, CVD color vision defect, E emmetropic (with no refractive error), IOP intraocular pressure, OCT optical coherence tomography, o.d. right eye, o.s. left eye, o.u. both eyes, ONH optic nerve head, SE spherical equivalent, VEP visual evoked potentials, META-PM meta analyses of pathologic myopia