Global Variome shared LOVD

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Phenotype #0000307962 Individual ID 00416197 Associated disease - Phenotype details phenotyping data, right/left eye: axial length (mm): 26.77/26.92; visual acuity (LogMAR): 0.60/0.72; refraction (spherical equivalent):-10.25/-11.00; optical coherence tomography, baseline age: 45y, follow-up time: 1.7y, ellipsoid zone grade (described in Sundaram et al.., 2014): 4/4, ellipsoid zone width, baseline (um): 641/594, rate of EZ loss (um/year): 2/1; fundus autofluorescence, baseline age: 44y, follow-up time: 1.7y; rate of Increase in decreased autofluorescence (mm2/y): 0/0; rate of ring increase (mm2/y): 0§/0§; evidence of progression: Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 46y8m (46 years, 8 months) 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 2022-08-24 10:51:33 +02:00 (CEST) Date last edited N/A

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