Global Variome shared LOVD

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Phenotype #0000311013 Individual ID 00419733 Associated disease - Phenotype details infancy: nystagmus, impaired visual acuity, and photophobia; fundus examination: crowded optic discs in both eyes; mild macular atrophy; fundus autofluorescence: mild foveal hyperautofluorescence; spectral domain-optical coherence tomography: severe foveal hypoplasia in the right and left eyes and focal disruption in the inner segment ellipsoid layer at the site of the presumed foveal pit; photopic full-field (light-adapted 3.0) electroretinogram: defective (barely detectable) amplitudes for the a-wave and b-wave responses Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 7y (7 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 2022-10-22 10:25:17 +02:00 (CEST) Date last edited N/A

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