Global Variome shared LOVD

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Phenotype #0000226952 Individual ID 00299642 Associated disease - Phenotype details see paper; ..., 30y-photopsia (HP:0030786), nyctalopia (HP:0000662), field defect; irregular pigmented lesions in periphery (HP:0007703), foveal/parafoveal cysts (HP:?); 30y-PERG borderline on R, subnormal on L, undetectable rod ERG, abnormal cone ERG, severe rod>cone dysfunction; 33y-colour vision Ishihara R 21/23 L 3/23; 36y-fields to confrontation less than 30 degrees; presenting VA logMAR (Snellen) R 0.18 (20/30), L 0.48 (20/60); latest VA logMAR R 0.18 (20/30), L 0.8 (20/125); latest refractive error, dioptres R +2.25/-1.00x5, L +2.00/-1.50x165 Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite RP78 Age/Examination 38y (38 years) Age/Diagnosis - Age/Onset 30y 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 2020-04-18 08:53:03 +02:00 (CEST) Date last edited 2020-04-18 10:03:02 +02:00 (CEST)

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