Global Variome shared LOVD

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Phenotype #0000305318 Individual ID 00413339 Associated disease - Phenotype details color vision deficiency, photophobia, no night blindness; best corrected visual acuity right/left eye: 0.7 / 0.6; refractive error: not performed; visual field right/left eye: central scotoma; electroretinography amplitudes scotopic / photopic: low amplitudes / low amplitudes; electroretinography implicit time scotopic / photopic: not performed; multifocal electroretinography: not performed; electrooculogram: not performed; optical coherence tomography: sparse retinal pigment epithelium alteration at the macula; anterior segment: normal in both eyes Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite cone dystrophy Age/Examination 38y (38 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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