Phenotype #0000307961

Individual ID	00416196
Associated disease	-
Phenotype details	phenotyping data, right/left eye: axial length (mm): 22.50/22.56; visual acuity (LogMAR): 0.78; refraction (spherical equivalent):-0.50/-0.50; optical coherence tomography, baseline age: 29y, follow-up time: 7.3y, ellipsoid zone grade (described in Sundaram et al.., 2014): 5/5, ellipsoid zone width, baseline (um): 2053/1866, rate of EZ loss (um/year): 102/107; fundus autofluorescence, baseline age: 27y, follow-up time: 5.9y; rate of Increase in decreased autofluorescence (mm2/y): 0.19/0.15; rate of ring increase (mm2/y): 0.10/0.10; evidence of progression: yes
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	achromatopsia
Age/Examination	36y4m (36 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