Global Variome shared LOVD

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

Phenotype #0000304962 Individual ID 00412976 Associated disease - Phenotype details best corrected visual acuity right, left eye: light perception, light perception; spherical equivalent refraction: -9.00, -8.25; lens status: mild posterior subcapsular cataract, mild cortical and nuclear cataract; electroretinogram, scotopic: nonrecordable (46y), photopic: nonrecordable (46y); Goldmann perimetry: no visual field measurable Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 52y (52 years) Age/Diagnosis - Age/Onset 5y Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-07 11:38:31 +02:00 (CEST) Date last edited N/A

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