Global Variome shared LOVD

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Phenotype #0000312624 Individual ID 00421385 Associated disease - Phenotype details best corrected visual acuity right, left eye: 6/5, 6/6; pattern electroretinography: delayed & subnormal; electroretinography: normal; multifocal electroretinography: bilaterally subnormal with relative sparing of the eccentric responses; fundus appearance: sharply demarcated outer retinal atrophic lesions in the macula with foveal sparing Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite late-onset macular dystrophy Age/Examination 41y (41 years) Age/Diagnosis - Age/Onset 40y Phenotype/Onset difficulty transitioning from light to dark Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-11-04 12:16:27 +01:00 (CET) Date last edited N/A

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