All individuals with variants in gene OPA3

29 entries on 1 page. Showing entries 1 - 29.
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00036441 - - - - - Germany - - - - - OPA Optikusatrophie bilateral, Myopie, scotoma bilateral, Neuritis nervi optici bilateral 2006, Meningitis purulenta (1991), Meningitis/Enzephalitis (1995), Asthma bronchiale, suspected myopathy (1998), focal epilepsy (1998), defect of coagulation factor. 1 1 Andreas Laner
00036442 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036443 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00073160 - ATX515 - F - France - - - - - SCAR - 1 1 Claire Guissart
00088079 - - OPA1 negative result F ? Germany - - - - - ? Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 1 1 Andreas Laner
00088080 - - - M ? Germany - - - - - ? Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia); other family members affected 1 1 Andreas Laner
00248424 - - - M - - - - - - - - HP:0000648 (Optic atrophy) 1 1 Andreas Laner
00292159 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 185 Mohammed Faruq
00292160 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 42 Mohammed Faruq
00296394 - - - M - - - - - - - ? Optic atrophy (HP:0000648) 1 1 Andreas Laner
00300623 - - - F - Germany - - - - - ? Optic atrophy (HP:0000648) 2 1 Andreas Laner
00304668 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00333353 Pat9 PubMed: Costa 2017 - F - Brazil - - - - - retinal disease see paper; ... 1 1 LOVD
00362900 ZD68 PubMed: Weisschuh 2016 family - - Germany - - - - - retinal disease see paper; ... 1 1 LOVD
00363366 HM327 PubMed: Sun 2015 proband - - China - - - - - retinal disease - 1 1 LOVD
00372726 RP322 PubMed: Xu 2014 - - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00384244 13119 PubMed: Wang 2019 - F - China - - - - - OPA1 - 1 1 LOVD
00416620 72005 PubMed: Atac 2020 sibling of 71953 F - - - - - - - retinal disease 2.5y: esotropia, 4y: myopic astigmatism; 7y: hospital due to unexplained low vision despite corrective glasses and amblyopia treatment; cognitively normal, excellent grades at school; best corrected visual acuity right, left eye, distance: 20/100, 20/200; near: 20/80, 20/100; left microesotropia; refraction: myopic astigmatism; neurological and endocrinological assessment: normal; visual acuity stable during the observation period up to 11y; fundus: bilateral severe optic nerve hypoplasia, signs of foveal hypoplasia and abnormal vessel distribution with tortuosity and drag of the retinal vessels towards the temporal side; no sign of microphthalmia or microcornea; optical coherence tomography: significantly reduced thickness of the retinal nerve fiber layer as well as the ganglion cell and inner plexiform layers; grade 1 foveal hypoplasia with absent extrusion of plexiform layers and a shallow foveal pit; cerebral magnetic resonance imaging: severely hypoplastic optic nerves within small optic nerve sheaths; no abnormalities of midline structures or other brain areasmeasurements right/left eye: total macular volume, mm3: not available/7.53; central macular thickness, um: not available/284; ganglion cell layer and the inner plexiform layer, mm3: not available/not available; retinal nerve fiber layer thickness, um: not available/not available; optic nerve head diameter: not available (hypoplasia)/not available 1 1 LOVD
00416621 71953 PubMed: Atac 2020 sibling of 72005 F - - - - - - - retinal disease 2y: esotropia; 3y: reduced visual function; cognitively normal, excellent grades at school during the observation period; best corrected visual acuity right, left eye,near: 20/200, 20/100; orthoptic assessment: right microesotropia with eccentric fixation superior to the presumed foveolar; refraction: hyperopic astigmatism; neurological and endocrinological assessment: normal; visual acuity stable during the observation period up to 6y; fundus: bilateral severe optic nerve hypoplasia, signs of foveal hypoplasia and abnormal vessel distribution with tortuosity and drag of the retinal vessels towards the temporal side; peripheral retina: incomplete vascularization of the far peripheral retina, without visible signs of neovascularization; no sign of microphthalmia or microcornea; optical coherence tomography: significantly reduced thickness of the retinal nerve fiber layer as well as the ganglion cell and inner plexiform layers; grade 2 hypoplasia with absent extrusion of plexiform layers and absent foveal pitmeasurements right/left eye: total macular volume, mm3: 7.28/not available; central macular thickness, um: 278/not available; ganglion cell layer and the inner plexiform layer, mm3: 0.33/not available; retinal nerve fiber layer thickness, um: 28/not available; optic nerve head diameter: not available (hypoplasia)/not available 1 1 LOVD
00416622 71965 PubMed: Atac 2020 father of 72005 and 71953 M - - - - - - - retinal disease grade 1 foveal hypoplasia with absent extrusion of plexiform layers and a shallow foveal pitmeasurements right/left eye: total macular volume, mm3: 9.32/9.34; central macular thickness, um: 300/302; ganglion cell layer and the inner plexiform layer, mm3: 0.85/0.84; retinal nerve fiber layer thickness, um: 104/104; optic nerve head diameter: 1589 x 1754/1635 x 1819 1 1 LOVD
00444868 Fam8 PubMed: Fan 2020 2-generation family, affected mother/sib - - China - - - - - CTRCT binocular, perinuclear/coralliform 1 2 Johan den Dunnen
00444877 Pat3 PubMed: Fan 2020 2-generation family, 1 affected - - China - - - - - CTRCT binocular, all white 1 1 Johan den Dunnen
00446468 Fam64Pat175 PubMed: Liu 2023 2-generation family, affected mother/son M - China - - - - - CTRCT bilateral congenital cataract 1 2 Johan den Dunnen
00446469 Fam64Pat176 PubMed: Liu 2023 mother F - China - - - - - CTRCT bilateral congenital cataract 1 1 Johan den Dunnen
00446481 Fam81Pat222 PubMed: Liu 2023 family M - China - - - - - CTRCT bilateral congenital cataract 1 2 Johan den Dunnen
00446482 Fam81Pat224 PubMed: Liu 2023 relative F - China - - - - - Healthy/Control - 1 1 Johan den Dunnen
00461273 F125P133II-1 PubMed: Zheng 2024 - M - China - - - - - OPA see paper; ..., congenital onset; best corrected visual acuity (first visit) OD 0.07/OS 0.05; fundus oculi (first visit) OD diffuse pale optic disc, ARV, NMP/OS diffuse pale optic disc, ARV, NMP; flash visual evoked potentials PL, DA (OD/OS); electrophysiology severely reduced (rod/cone); 1 1 Johan den Dunnen
00461274 F126P134II-1 PubMed: Zheng 2024 - F - China - - - - - OPA see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.05/OS 0.05; fundus oculi (first visit) OD diffuse pale optic disc/OS diffuse pale optic disc; OCT OD diffuse thinning/OS diffuse thinning; 1 1 Johan den Dunnen
00461275 F127P135II-1 PubMed: Zheng 2024 - F - China - - - - - OPA see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.12/OS 0.12; fundus oculi (first visit) OD temporal pallor/OS temporal pallor; 1 1 Johan den Dunnen
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