Global Variome shared LOVD

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Phenotype #0000307575 Individual ID 00415797 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/100, 20/100; refraction right, left eye: -7.0 -3.75/10deg, -6.75 -3.25/170deg; fundus: myopic fundus with peripapillary atrophy and tilted disc; optical coherence tomography: foveal hyporeflective ellipsoid zone; fundus autofluorescence: Perifoveal hyperfluores -cent ring; color vision (test method): tritanomaly; full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: yes Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite incomplete achromatopsia Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset <8y Phenotype/Onset early childhood: poor vision, nystagmus, photophobia, strabismus Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-16 14:45:23 +02:00 (CEST) Date last edited N/A

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