Global Variome shared LOVD

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Phenotype #0000285083 Individual ID 00391760 Associated disease WEST Phenotype details Nystagmus - infancy, Photophobia - infancy, visual acuity right/left eye: 20/200: 20/250, Contrast Sensitivity: 0.75:0.75, , Color vision: Strong RG & moderate BY deficit, Refractive error -8.50/+1.25 × 115: -8.00/+1.00 × 70, Retinal exam: Tilted disc; dull foveal reflex; peripheral lattice; Fundus autofluorescence: subtle 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 14y (14 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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