Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000307021 Individual ID 00415223 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/209 (+6.5 -2.0 5deg), 20/115 (+6.0 -1.5 15deg); fundus: mild peripapillary atrophy, small amount of foveal atrophy; optical coherence tomography: foveal hypoplasia, inner/outer segment absence; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: pendular nystagmus at birth, now mild nystagmus; progression: no Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 45y (45 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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