Global Variome shared LOVD

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Phenotype #0000285167 Individual ID 00391866 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.6/0.7; waxy pallor of the optic discs, narrowed vessels, atrophic retina with moderate bone spicules pigmentation. Macular region: mild pigmentary changes and shiny reflex. Fundus autofluorescence: hypofluorescent changes in the peripapillary area and along the arcades, reduced fluorescence in the macular areas, hyperautofluorescent changes in the papillomacular region, especially in the right eye (images in the right eye were obscured by some central vitreous opacities); spectral-domain optical coherence tomography: loss of ellipsoid zone outside the foveal area; Goldmann perimetry revealed a concentric constriction visual fields; electroretinography: severe generalized retinal dysfunction involving both rods and cones Diagnosis/Initial retinitis pigmentosa Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-11-19 12:39:43 +01:00 (CET) Date last edited N/A

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