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. 2021 Jan 22;16:45. doi: 10.1186/s13023-021-01673-z

Table 1.

Clinical findings of the investigated family members

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)

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