Global Variome shared LOVD

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

Phenotype #0000302300 Individual ID 00410196 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/25 + 2, 20/25 + 1; refraction right, left eye: -8.75 + 3.50 x 105, -8.75 + 3.25 x 075 ; Goldmann visual field at diagnosis: full both eyes; midperipheral scotoma temporally to I4e both eyes; full field electroretinography: cone greater than rod dysfunction both eyes Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 43y (43 years) Age/Diagnosis 29y Age/Onset 42y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-20 13:34:01 +02:00 (CEST) Date last edited N/A

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