All individuals with variants in gene ITM2B

15 entries on 1 page. Showing entries 1 - 15.
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00328422 690627 PubMed: Zhou 2018 - - - China - - - - - retinal disease - 1 1 LOVD
00379434 - PubMed: Zhou 2011 - - - China - - - - - retinal disease - 1 1 LOVD
00417461 III.9 PubMed: Audo 2014 large family, individual III.9; proband's father's brother 3 M - - - - - - - retinal disease - 1 1 LOVD
00417462 III.11 PubMed: Audo 2014 large family, individual III.11; proband's father's sister 1 F - - - - - - - retinal disease - 1 1 LOVD
00417463 III.13 PubMed: Audo 2014 large family, individual III.13; proband's father's sister 2 F - - - - - - - retinal disease symptoms: mild photophobia, decreased vision; best corrected visual acuity right, left eye: 20/100; 20/250; refraction right / left eye: -1.75 (-1.75)x95deg/-3.75 (-0.5) x70deg; colour vision right/left eye: normal / mild tritanopia; kinetic visual field:relative central scotoma within 10 central degrees with normal peripheral isopter; fundus: temporal optic disc pallor; mild retinal vessel narrowing; foveal changes; fundus autofluorescence: hyper-autofluorescent ring around the macular region; hypo-autofluorescence within the ring with subtle foveal hyper-autofluorescence; spectral domain optical coherence tomography: hyper-reflectivity within the foveal outer nuclear layer; small drusenoid changes in the foveal region; hyper-reflectivity of the inner retina 1 1 LOVD
00417464 III.15 PubMed: Audo 2014 large family, individual III.15; proband's father's sister 3 F - - - - - - - retinal disease symptoms: mild photophobia, decreased vision; best corrected visual acuity right, left eye: 20/250; 20/400; refraction right / left eye: +1.25 (-1.75)x130deg/+1 (-1) x80deg; colour vision right/left eye: both eyes mild deuteranopia; kinetic visual field:relative central scotoma within 20 central degrees with normal peripheral isopter; fundus: pale optic disc; mild retinal vessel narrowing; foveal changes; fundus autofluorescence: hyper-autofluorescent ring around the macular region; hypo-autofluorescence within the ring with subtle foveal hyper-autofluorescence; spectral domain optical coherence tomography: hyper-reflectivity within the foveal outer nuclear layer; hyper-reflectivity and thinning of the inner retina 1 1 LOVD
00417465 IV.11 PubMed: Audo 2014 large family, individual IV.11, proband's monozygotic twin F - - - - - - - retinal disease symptoms: mild photophobia, decreased vision; best corrected visual acuity right, left eye: 20/63; 20/80; refraction right / left eye: +1 (-0.25) 125deg/-0.75 (-0.25) x85deg; colour vision right/left eye: both eyes normal; kinetic visual field:relative central scotoma within the 5 central degree; blind spot exclusion; normal peripheral isopter; fundus: temporal pale optic disc; subtle foveal changes; fundus autofluorescence: mild hyper-autofluorescent ring around the macular region; subtle hypo-autofluorescence within the ring; spectral domain optical coherence tomography: hyper-reflectivity within the foveal outer nuclear layer; hyper-reflectivity of the inner retina 1 1 LOVD
00417466 IV.12 PubMed: Audo 2014 large family, individual IV.12, proband F - - - - - - - retinal disease symptoms: mild photophobia, decreased vision; best corrected visual acuity right, left eye: 20/50; 20/63; refraction right / left eye: +0.50/+0.75; colour vision right/left eye: both eyes normal; kinetic visual field:relative central scotoma within the 5 central degree; blind spot exclusion; normal peripheral isopter; fundus: temporal pale optic disc; subtle foveal changes; fundus autofluorescence: mild hyper-autofluorescent ring around the macular region; subtle hypo-autofluorescence within the ring; spectral domain optical coherence tomography: hyper-reflectivity within the foveal outer nuclear layer; hyper-reflectivity of the inner retina 1 1 LOVD
00417467 IV.13 PubMed: Audo 2014 large family, individual IV.13, proband's younger brother M - - - - - - - retinal disease symptoms: mild photophobia, decreased vision; best corrected visual acuity right, left eye: 20/80; 20:63; refraction right / left eye: -4.50 (-0.50)x100deg/-4 (-0.75) x85deg; colour vision right/left eye: both eyes normal; kinetic visual field:relative central scotoma within the 5 central degree; normal peripheral isopter; fundus: temporal pale optic disc; subtle foveal changes; fundus autofluorescence: mild hyper-autofluorescent ring around the macular region; subtle hypo-autofluorescence within the ring peripheral autofluorescence abnormalities; spectral domain optical coherence tomography: hyper-reflectivity within the foveal outer nuclear layer; hyper-reflectivity of the inner retina 1 1 LOVD
00417468 IV.15 PubMed: Audo 2014 large family, individual IV.15; proband's father's brother 3's son M - - - - - - - retinal disease symptoms: mild photophobia, decreased vision; best corrected visual acuity right, left eye: 20/25; 20/63; refraction right / left eye: plano/+0.50; colour vision right/left eye: mild deuteranopia / moderate dyschromatopsia without preferential axis; kinetic visual field:centrocoecal scotoma with normal periphera isopter; fundus: temporal pale optic disc; subtle foveal changes; fundus autofluorescence: hyper-autofluorescence in the posterior pole with decreased autofluorescence within the macular region and a fascicular inferior hypo-autofluorescence in the right eye; spectral domain optical coherence tomography: hyper-reflectivity within the foveal outer nuclear layer; hyper-reflectivity of the inner retina; thinning of the outer retina in the paramacular area 1 1 LOVD
00417469 IV.22 PubMed: Audo 2014 large family, individual IV.22; proband's father's sister 2's son M - - - - - - - retinal disease symptoms: mild photophobia, decreased vision; best corrected visual acuity right, left eye: 20/100; 20/125; refraction right / left eye: -3.50 (-0.75)x110deg/-4.25 (-0.75)x65deg; colour vision right/left eye: both eyes normal; kinetic visual field:relative central scotoma within the 15 central degree; normal peripheral isopter; fundus: subtle temporal pale optic disc; subtle foveal changes; fundus autofluorescence: hyper-autofluorescent ring around the macular region; hypo-autofluorescence within the ring with subtle foveal hyper-autofluorescence; spectral domain optical coherence tomography: hyper-reflectivity within the foveal outer nuclear layer; hyper-reflectivity of the inner retina 1 1 LOVD
00417470 IV.27 PubMed: Audo 2014 large family, individual IV.27; proband's father's sister 3's son 2 M - - - - - - - retinal disease symptoms: night blindness, mild photophobia, decreased vision; best corrected visual acuity right, left eye: 20/100; 20/100; refraction right / left eye: -2 (-1) 110deg/-2 (1;50) 60deg; colour vision right/left eye: both eyes normal; kinetic visual field:relative central scotoma within the 15 central degree; normal peripheral isopter; fundus: subtle temporal pale optic disc; subtle foveal changes; fundus autofluorescence: hyper-autofluorescent ring around the macular region; hypo-autofluorescence within the ring; spectral domain optical coherence tomography: hyper-reflectivity within the foveal outer nuclear layer; hyper-reflectivity of the inner retina 1 1 LOVD
00417471 IV.28 PubMed: Audo 2014 large family, individual IV.28; proband's father's sister 3's daughter F - - - - - - - retinal disease symptoms: night blindness, mild photophobia, decreased vision; best corrected visual acuity right, left eye: 20/50; 20/50; refraction right / left eye: -2.50 (-1.25)x65deg/-2.50 (-1.25)x60deg; colour vision right/left eye: both eyes deuteranopia; kinetic visual field:relative central scotoma within the 10 central degree; normal peripheral isopter ; fundus: subtle temporal pale optic disc; subtle foveal changes ; fundus autofluorescence: subtle hyper-autofluorescent ring around the macular region; hypo-autofluorescence within the ring ; spectral domain optical coherence tomography: hyper-reflectivity within the foveal outer nuclear layer; hyper-reflectivity of the inner retina 1 1 LOVD
00417472 III.9 PubMed: Audo 2014 large family, individual III.9; proband's father's brother 3 M - - - - - - - retinal disease - 1 1 LOVD
00417473 III.11 PubMed: Audo 2014 large family, individual III.11; proband's father's sister 1 F - - - - - - - retinal disease - 1 1 LOVD
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