All individuals with variants in gene LPAR6

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00290938 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 8 Mohammed Faruq
00416018 Patient II:1 PubMed: Pedurupillay 2016 parents were first-degree cousins - - - Pakistani - - - - retinal disease best corrected visual acuity: 6/15, 6/24; refraction: 10.5, -2.5 x 180; -10.5, -2.5 x 160; nystagmus: present; photophobia: absent; goldmann perimetry: normal; fundoscopy: changes in optic disc and peripapillary area; retina: mild myopic changes; macular autofluorescence: mottled; color vision: red-green deficiency: severe, blue-yellow: normal; electroretinogram: rods: normal; cones single flash: weak; cones 30 Hz flicker: weakoptical coherence tomography, inner/outer segment junction: normal, fovea: normal 1 1 LOVD
00416019 Patient II:2 PubMed: Pedurupillay 2016 parents were first-degree cousins - - - Pakistani - - - - retinal disease best corrected visual acuity: 6/20, 6/15; refraction: -9.0, -2.0 x 30, -9.5, -2.5 x 160; nystagmus: present transiently; photophobia: absent; goldmann perimetry: not available; fundoscopy: changes in optic disc and peripapillary area, discreet, small disruptions of retinal pigment epithelium in central fovea; retina: mild myopic changes; macular autofluorescence: mottled; color vision: red-green deficiency: moderate, blue-yellow: normal; electroretinogram: rods: normal; cones single flash: weak; cones 30 Hz flicker: weakoptical coherence tomography, inner/outer segment junction: normal, fovea: norma 1 1 LOVD
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