Global Variome shared LOVD

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Phenotype #0000285081 Individual ID 00391758 Associated disease - Phenotype details Nystagmus - infancy, Photophobia - infancy, visual acuity right/left eye: 20/200: 20/200, Contrast Sensitivity: 0.75:0.60, , Color vision: Strong RG & BY, deficit, Refractive error -10.50/+4.00 ×, 105:, -10.50/+4.00 × 75, Retinal exam: macular atrophy, Fundus autofluorescence: Foveal hyper-AF, Grade 1 foveal hypoplasia; Optical Coherence Tomography: Mild disruption of outer segments, in central, sub-foveal regi Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 23y (23 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 2021-11-18 15:02:57 +01:00 (CET) Date last edited N/A

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