Global Variome shared LOVD

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Phenotype #0000302298 Individual ID 00410194 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/40-1, 20/60-2; refraction right, left eye: -2.00 + 3.25 x 094, -2.00 + 3.25 x 083; Goldmann visual field at diagnosis: central 10deg island with inferotemporal crescent both eyes (IV4e); full field electroretinography: not measurable to all stimuli both eyes Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 47y (47 years) Age/Diagnosis 24y Age/Onset 19y 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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