Phenotype #0000046595

Individual ID 00060105
Associated disease OCMD
Phenotype details age presentation late 20s ; fundus normal ; fundus autofluorescence imaging irregular foveal; foveal appearance on spectral‐domain optical coherence tomography focal disruption of the ISe line in the foveola; irregular ISe line; significant thinning ; full‐field electroretinograms normal; pattern electroretinogram P50 components severely subnormal; widespread multifocal electroretinograms reduction
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 12:41:02 +01:00 (CET)
Date last edited 2021-03-11 16:07:31 +01:00 (CET)

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