Global Variome shared LOVD

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Phenotype #0000255699 Individual ID 00360294 Associated disease - Phenotype details asymptomatic; asymptomatic; Central macular abnormalities. Right eye fundus appearance shows central macula pigmentary changes right eye autofluorescence shows central macula points of increased and decreased sign; right eye optical coherence tomography horizontal section shows thickening of the ellipsoid zone centrally and corresponding loss of the outer SEQments; more peripherally there is outer nuclear layer thinning; centrally an area of increased signal just posterior to the retinal pigment epithelium can be appreciated; left eye fundus appearance shows central macula pigmentary changes; Diagnosis/Initial central areolar choroidal dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Manon Peeters Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-06 16:50:09 +02:00 (CEST) Date last edited N/A

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