Global Variome shared LOVD

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Phenotype #0000307588 Individual ID 00415810 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/80, 20/63; refraction right, left eye: 0, +0.75 -0.75/28deg; fundus: normal; optical coherence tomography: normal; fundus autofluorescence: normal; color vision (test method): mixed displacements (Lanthony), nearly normal (Farnswort); full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: no Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite incomplete achromatopsia Age/Examination 56y (56 years) Age/Diagnosis - Age/Onset 0m Phenotype/Onset birth: low vision 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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