Global Variome shared LOVD

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Phenotype #0000295672 Individual ID 00402924 Associated disease - Phenotype details Best corrected visual acuity: correctable to 20/20-1 OD with -2.00 0.50 x 90 diopters and 20/20-1 OS with -0.500.25 x 95 diopters; vision screening (Ishihara plates): normal; intraocular pressure right/left eye: 10 mm Hg / 11 mm Hg; anterior segment: normal; fundus examination: normal-appearing optic discs with normal retinal vessels; both eyes vitelliform-appearing lesion within the fovea; electro-oculographic results: light-peak to dark-trough ratio of 1.33 OD and 1.20 OS (norm: 1.75); patient’s parents – no symptoms, no mutation, paternity and maternity confir Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite dystrophy, macular, vitelliform type 2 (VMD2) Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-02-14 14:42:41 +01:00 (CET) Date last edited N/A

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