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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