Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000315341 Individual ID 00424143 Associated disease - Phenotype details age at initial visit (years): 15; first visit: best corrected visual acuity right/left eye: 0.6/0.5; visual field at initial visit: central island; electroretinogram: not detectable; age at final visit (years): 32; final visit: best corrected visual acuity right/left eye: hand motion/0.1; adaptive optics ���nidngs: photoreceptor island/photorecepto Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 32y (32 years) Age/Diagnosis - Age/Onset 6y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-11-17 17:30:02 +01:00 (CET) Date last edited N/A

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