Global Variome shared LOVD

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Phenotype #0000302204 Individual ID 00410095 Associated disease - Phenotype details best corrected visual acuity (2004) right, left eye: not tested; best corrected visual acuity right, left eye (2016): light perception, amaurosis; Goldmann visual field: Not tested; macular map optical coherence tomography: Not tested; rod full field electroretinography amplitudes (uV): extinguished; cone full field electroretinography amplitudes (uV) right, left eye: residual responses 0.5, 1; multifocal electroretinography amplitudes (uV): not tested; cGMP concentration nM: 150 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 73y (73 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-18 20:43:18 +02:00 (CEST) Date last edited N/A

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