Phenotype #0000300269

Individual ID 00408140
Associated disease -
Phenotype details age at 1st exam: 7y, refraction: +3.00;+2.50; best corrected visual acuity right/left eye: 0.02 / 0.03; fundus changes: attenuated vessels, yellowish-white mottled degeneration in midperipheral retina, a few tiny pepper-powder like pigmentation, electroretinogram rods/cones: extinguish
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite juvenile retinitis pigmentosa
Age/Examination -
Age/Diagnosis -
Age/Onset 4y
Phenotype/Onset poor vision or no pursuit of objects, nystagmus
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-14 16:40:13 +02:00 (CEST)
Date last edited N/A

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