Global Variome shared LOVD

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Phenotype #0000224063 Individual ID 00296659 Associated disease - Phenotype details 12y-nyctalopia (HP:0000662), vision problems (HP:0000504); 78y-visual acuity 20/80 OD (HP:0007663) and light perception OS, constricted visual fields (HP:0030526) 5 degrees, peripapillary atrophy (HP:0500087); funduscopy featured bone spicules (HP:0007737), attenuated retinal vessels (HP:0007843); optical coherence tomography revealed chorioretinal atrophy (HP:0000533), retinal thinning (HP:0030329) with absent inner segment/outer segment (IS/OS) junctions (HP:?) and cystoid macular edema (HP:0011505) both eyes Diagnosis/Initial non-syndromic retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite RP76 Age/Examination 78y (78 years) Age/Diagnosis - Age/Onset 12y Phenotype/Onset nyctalopia, vision problems Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-04-09 19:35:35 +02:00 (CEST) Date last edited N/A

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