Table 1.
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