Global Variome shared LOVD

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Phenotype #0000299475 Individual ID 00407088 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/200, 20/200, color vision test: dyschromatopsia, visual-evoked potentials: pathologic - low amplitude of P100 wave, enlarged latency (implicit time), electroretinogram: photopic: diminished, scotopic: slightly reduced, visual field: diffused loss of central vision; no nyctalopia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosi Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset <1y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-06 10:55:02 +02:00 (CEST) Date last edited N/A

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