Global Variome shared LOVD

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Phenotype #0000046596 Individual ID 00060106 Associated disease OCMD Phenotype details age presentation first decade of life ; fundus normal right eye, small area of atrophy left eye (coloboma) ; fundus autofluorescence imaging irregular foveal, consistent with coloboma left eye; foveal appearance on spectral‐domain optical coherence tomography focal disruption of the ISe line in the foveola of re; consistent with coloboma in the le ; full‐field electroretinograms normal; pattern electroretinogram P50 components subnormal; central multifocal electroretinograms subnormal. Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 31y (31 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Alice Davidson Database submission license No license selected Created by Alice Davidson Date created 2012-10-29 12:43:15 +01:00 (CET) Date last edited 2021-03-11 16:07:31 +01:00 (CET)

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