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)

Global Variome shared LOVD