Global Variome shared LOVD

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Phenotype #0000298734 Individual ID 00406236 Associated disease - Phenotype details best-corrected visual acuity: 20/32 in each eye; intraocular pressure right/left eye: 12 / 10 mmHg; anterior segment: normal, fundus: 180 degrees of inferior peri-foveolar atrophy right eye, and nearcircumferential peri-foveolar atrophy left eye; spectral domain optical coherence tomography: outer retinal atrophy with central foveal sparing; fluorescein angiography: early transmission hyperfluorescence due to window defects at the areas corresponding to peri-foveolar atrophy; 60y: normal photopic and scotopic full-field electroretinography and electrooculography, and central depression on multifocal electroretinography; during 6 years of follow-up, BCVA fluctuations between 20/20 and 20/32 in both eyes, and mild increase in the area of peri-foveolar atrophy Diagnosis/Initial benign concentric annular macular dystrophy Inheritance Unknown Diagnosis/Definite adult-onset macular dystrophy Age/Examination 61y (61 years) Age/Diagnosis - Age/Onset 55y Phenotype/Onset mild-blurred vision in the right eye Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-25 19:28:21 +01:00 (CET) Date last edited N/A

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