Global Variome shared LOVD

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Phenotype #0000307106 Individual ID 00415309 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/200, 20/200; refraction (spherical equivalent) right, left eye: -4.25D, -3.75D; fundus: myopic optic discs with slightly attenuated vessels, macular bull's eye with relatively spared fovea with surrounding atrophic ring (le>re), little retinal pigment epithelium defects superior of macula, blonde aspect of fundus; autofluorescence: not performed; optical coherence tomography:not performed; color vision testing:not performed; visual field (Goldmann):decrease of central sensitivity, no other abnormalities (43y); electroretinogram:photopic and scotopic responses normal, multifocal electroretinography severely reduced responses (51y) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite macular dystrophy Age/Examination 65y (65 years) Age/Diagnosis 43y Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-11 14:38:16 +02:00 (CEST) Date last edited N/A

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