Global Variome shared LOVD

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Phenotype #0000305820 Individual ID 00413860 Associated disease - Phenotype details best corrected visual acuity: 20/20; peripheral retina: irregular course pigmentation but not gross pigmentary clumping, normal caliber of retinal blood vessels; fundus appearance before and after 4 h of dark adaptation: similar except that the peripheral retinal pigmentary changes were slightly less evident after the extended dark adaptation; electroretinogram: slow recovery to nearly normal amplitude after 4 h in the dark but not after only 30 min; cone ERG amplitude essentially normal Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2)) Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset - Phenotype/Onset night blindness apparent by early childhood Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-25 13:00:04 +02:00 (CEST) Date last edited N/A

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