Phenotype #0000307965

Individual ID	00416200
Associated disease	-
Phenotype details	phenotyping data, right/left eye: axial length (mm): 27.78/27.47; visual acuity (LogMAR): 1; refraction (spherical equivalent):-9.00/-9.75; optical coherence tomography, baseline age: 46y, follow-up time: 7.3y, ellipsoid zone grade (described in Sundaram et al.., 2014): 5/5, ellipsoid zone width, baseline (um): 3861/4149, rate of EZ loss (um/year): 11/47; fundus autofluorescence, baseline age: 45y, follow-up time: 7.3y; rate of Increase in decreased autofluorescence (mm2/y): 0.03/0.03; rate of ring increase (mm2/y): 0.27/0.17; evidence of progression: yes
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	achromatopsia
Age/Examination	53y4m (53 years, 4 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-24 10:51:33 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD