Global Variome shared LOVD

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Phenotype #0000303366 Individual ID 00411290 Associated disease - Phenotype details sectoral RP with a later age of onset; presented 6 years ago (58y) at a general ophthalmic clinic after referral from her general practitioner, complaining of hazy vision in both eyes; best corrected visual acuity right, left eye: 6/9, 6/12; fundus: sector RP affecting the inferior fundus, particularly along the inferotemporal vessels; visual field changes corresponded with this in that there was a marked loss of vision in the upper field in each eye; photopic electroretinogram right, left eye: 43%, 37% of normal, scotopic ERG 41%, 29% of normal in right and left eyes respectively Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 64y (64 years) Age/Diagnosis - Age/Onset - Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-06-10 13:51:43 +02:00 (CEST) Date last edited N/A

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