Global Variome shared LOVD

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Phenotype #0000307019 Individual ID 00415221 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/200 (+3.0), 20/200 (+3.0); fundus: small retinal pigment epithelium-defect in the fovea, pathological reflexes; optical coherence tomography: foveal hypoplasia, missing foveal pit, inner/outer segment and retinal pigment epithelium disruption; color vision: not available; visual field: not available; scotopic / photopic electroretinogram: not available; glare: yes; nystagmus: nystagmus at birth, currently no nystagmus; progression: no Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 9y (9 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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