Phenotype #0000083639

Individual ID	00105743
Associated disease	OPA
Phenotype details	autosomal dominant optic atrophy; clinical info spans <11y, ? clinical info relatives; visual handicap: stopped driving
Diagnosis/Initial	optic atrophy
Inheritance	Unknown
Diagnosis/Definite	OPA-1
Age/Examination	34y (34 years)
Age/Diagnosis	-
Age/Onset	31y-40y
Phenotype/Onset	-
Birth_Details	-
MotorSkills	-
Vision/Abnormality	loss
Hearing/Loss	normal
Eye/Optic_Disc	OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD diffuse;OS diffuse
Protein	-
Brain/Imaging	-
Eye/OCT	OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;cirrus
Vision/Field	OD Humphrey;OD -4.01 to -12;OD centrocecal;OS Humphrey;OS -12.01 to -20;OS undefined
Vision/Acuity	OD 1.1 LogMAR;OS 1.2 LogMAR
Vision/Colour	OD dyschromatopsia;OS dyschromatopsia
Habits	-
Owner name	Angelique Caignard
Database submission license	No license selected
Created by	Angelique Caignard
Date created	2014-01-20 09:45:52 +01:00 (CET)
Date last edited	2018-11-16 15:42:11 +01:00 (CET)

Global Variome shared LOVD