Global Variome shared LOVD

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Phenotype #0000315393 Individual ID 00424198 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.4 / 0.3; fundus photographs: retinal degeneration without pigmentation around arcade vessel and macular; fundus autofluorescence imaging or fluorescein angiography: not done; optical coherence tomography: not done; central visual field: constricted central visual field by I-4e isopter within 5 degrees; peripheral visual field: none; full-filed electroretinogram (DA-dark adapted, LA-light adapted): fLAsh: nonrecordable Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset 6y Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-11-18 12:57:37 +01:00 (CET) Date last edited N/A

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