Global Variome shared LOVD

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Phenotype #0000315286 Individual ID 00424079 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/400, 20/400; retinography: macular retinal pigment epithelium alterations that extend nasally of the optic disc; fundus autofluorescence: central hypofluorescence that does not preserve the peripapilar retinal pigment epithelium surrounded by a hyperfluorescent halo; optical coherence tomography: neurosensorial macular atrophy; full-field electroretinogramabnormal a-wave in both photopic and scotopic conditions. b-wave is within norma Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 20y (20 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 2022-11-16 20:34:22 +01:00 (CET) Date last edited N/A

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