Global Variome shared LOVD

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

Phenotype #0000304018 Individual ID 00412002 Associated disease - Phenotype details best corrected visual acuity, refraction right; left eye:20/20, -0.25 (-0.50: 15deg); 20/20, -0.5; no cataract; fundus: bone spicules in lower sector; optical coherence tomography: normal foveal lamination; visual field: normal; electroretinogram: normal scotopic responses, photopic 30-hz electroretinogram slightly reduced; no implicit time shift Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset - Phenotype/Onset mild photophobia, no night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-06-21 13:19:22 +02:00 (CEST) Date last edited N/A

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