Global Variome shared LOVD

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Phenotype #0000302045 Individual ID 00409931 Associated disease - Phenotype details nyctalopia in infancy; visual field loss: 3rd decade of life; visual acuity loss: 3rd decade of life; best corrected visual acuity: 20/200; macula: retinal and retinal pigment epithelium atrophy; age at visual field testing: 30y - central horizontal diameter V-4e (deg): not available/; central horizontal diameter I-4e (deg): not available/; minimal isopter size observed on Goldmann kinetic perimetry: not available; seeing retinal area V4e (mm2): not available/; pattern: supra-temporal absolute scotoma; relative central scotoma Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinal dystrophy Age/Examination 52y (52 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 2022-05-14 11:49:20 +02:00 (CEST) Date last edited N/A

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