Global Variome shared LOVD

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

Phenotype #0000300268 Individual ID 00408139 Associated disease - Phenotype details age at 1st exam: 3y5m, age at 1st exam: 8y6m, refraction: -1.50; -1.25; best corrected visual acuity right/left eye: 0.4 / 0.6; fundus changes: attenuated vessels, yellowish-white mottled degeneration in midperipheral retina, a few tiny pepper-powder like pigmentation, electroretinogram rods/cones: extinguis Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite juvenile retinitis pigmentosa Age/Examination - Age/Diagnosis - Age/Onset <1y Phenotype/Onset poor vision or no pursuit of objects, night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-14 16:40:13 +02:00 (CEST) Date last edited N/A

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