Global Variome shared LOVD

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Phenotype #0000304011 Individual ID 00411995 Associated disease - Phenotype details best corrected visual acuity, refraction right; left eye:20/20; 20/20; no cataract; fundus: bone spicules in lower sector; optical coherence tomography: normal foveal lamination; visual field: central scotoma (15deg) isopter V4; electroretinogram: 50% of normal value for scotopic responses; 60% of normal value for photopic responses: no implicit time sh Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 39y (39 years) Age/Diagnosis - Age/Onset - Phenotype/Onset mild 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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