Global Variome shared LOVD

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Phenotype #0000302432 Individual ID 00410328 Associated disease - Phenotype details presentation: asymptomatic; peripapillary atrophy; best corrected visual acuity right, left eye: 20/20; 20/20; +0.75+0.75 x 132, LE:+1.00+0.50 x 37; visual field: enlarged blind spots, both eyes; fundus features: bilateral peripapillary atrophy & peripheral reticular pigmentation; fundus autofluorescence: reduced peripapillary autofluorescence, reticular pattern of increased autofluorescence and patches of reduced autofluorescence not availablesally; optical coherence tomography: preservation of the foveal structure, deep peripapillary excavation & loss of outer retinal layers; electroretinogram: normal scotopic & photopic responses Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 50y (50 years) Age/Diagnosis - Age/Onset - Phenotype/Onset asymptomatic; peripapillary atrophy 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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