Global Variome shared LOVD

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Phenotype #0000305351 Individual ID 00413373 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.6/0.6; macular retinal pigment epithelium changes: yes; reduction of foveal outer nuclear layer thickness: not available; visual field: paracentral dysfunction; full field electroretinography: right eye: scotopic and photopic normal, left eye: scotopic and photopic reduced amplitudes; multifocal electroretinogram: diminished central responses, slightly diminished peripheral responses ; electrooculogram: normal; comments: rod involvement in the left eye Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite macular dystrophy Age/Examination 49y (49 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 2022-07-15 16:03:49 +02:00 (CEST) Date last edited N/A

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