Global Variome shared LOVD

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Phenotype #0000222701 Individual ID 00289069 Associated disease - Phenotype details pseudophakia, attenuated retinal vessels, severe retinal pigment epithelium both eyes, with recognisable foveal island, moderate optic disc pallor, bone spicule and nummular pigmentations, white epiretinal changes and old Coats-like exudative vasculopathy inferior quadrants both eyes; visual acuity right 20/400, left 20/400; spherical equivalent right −6.50, left −7.25; 32y-ERG scotopic non-recordable, photopic non-recordable; 48y-Goldmann perimetry constricted visual field, central residue <5 degree Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite RP86 Age/Examination 53y (53 years) Age/Diagnosis - Age/Onset 28y Phenotype/Onset night blindness Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-02-28 19:44:50 +01:00 (CET) Date last edited 2020-02-28 19:59:45 +01:00 (CET)

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