| 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) |