Global Variome shared LOVD

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Phenotype #0000302435 Individual ID 00410331 Associated disease - Phenotype details presentation: progressive visual field constriction ; best corrected visual acuity right, left eye: 20/20; 20/30; visual field: not available; fundus features: bilateral peripapillary atrophy & peripheral reticular pigmentation; fundus autofluorescence: reduced peripapillary autofluorescence, reticular autofluorescence pattern, patches of reduced autofluorescence not availablesally, relative sparing of the parafoveal region; optical coherence tomography: mild disruption of the ellipsoid zone & the inter-digitation zone; focal thickening of the rpe band not availablesal to the fovea; electroretinogram: not available Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 52y (52 years) Age/Diagnosis - Age/Onset - Phenotype/Onset progressive visual field constriction Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-24 11:34:37 +02:00 (CEST) Date last edited N/A

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