Global Variome shared LOVD

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Phenotype #0000302044 Individual ID 00409930 Associated disease - Phenotype details nyctalopia in infancy; visual field loss: 1st decade of life; visual acuity loss: 1st decade of life; best corrected visual acuity: counting fingers; macula: sheen, retinal pigment epithelium alterations; age at visual field testing: 29y - central horizontal diameter V-4e (deg): 73/63; central horizontal diameter I-4e (deg): 0/0; minimal isopter size observed on Goldmann kinetic perimetry: I-3e; seeing retinal area V4e (mm2): 768.3/725.7; pattern: relative central scotoma (���i4e). absolute paracentral s Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinal dystrophy Age/Examination 49y (49 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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