Global Variome shared LOVD

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Phenotype #0000307033 Individual ID 00415235 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/200 (+7.25 -1.25 100deg), 20/200 (+8.25 -1.25 20deg); fundus: small retinal pigment epithelium- defects in the fovea; optical coherence tomography: foveal hypoplasia, missing foveal pit, inner/outer segment and retinal pigment epithelium disruption; color vision: achromatopsia; visual field: slightly narrowed outer boundaries due to glare; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: No; progression: no Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 17y (17 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 2022-08-10 13:22:10 +02:00 (CEST) Date last edited N/A

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