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) |