Global Variome shared LOVD

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Phenotype #0000305315 Individual ID 00413336 Associated disease - Phenotype details color vision deficiency, photophobia, no night blindness; best corrected visual acuity right/left eye: 0.1 / 0.1; refractive error: +0.75 -0.50 130deg / +0.75 -0.50 50deg; visual field right/left eye: central and superior scotoma both eyes; electroretinography amplitudes scotopic / photopic: normal / normal; electroretinography implicit time scotopic / photopic: normal / mixed: augmented; multifocal electroretinography: diminished responses; electrooculogram: normal; optical coherence tomography: not performed; anterior segment: normal in both eyes Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite cone dystrophy Age/Examination 47y (47 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-15 13:49:51 +02:00 (CEST) Date last edited N/A

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