Global Variome shared LOVD

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Phenotype #0000224081 Individual ID 00296680 Associated disease - Phenotype details night blindness (HP:0000662) since youth; 52y visual acuity (HP:0007663) 20/400 OD, 20/40 OS, thinning whole retina (HP:0030329), flat fovea (HP:0000493), absent IS/OS junctions, bone-spicule (HP:0007737), salt-and-pepper pigment proliferation (HP:0007814) scattered in retina with macular involvement (HP:?) in both eyes, tunnel vision (HP:0007994) both eyes Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite RP76 Age/Examination 52y (52 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-04-10 13:10:20 +02:00 (CEST) Date last edited N/A

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