Phenotype #0000308341
| Individual ID |
00416621 |
| Associated disease |
- |
| Phenotype details |
2y: esotropia; 3y: reduced visual function; cognitively normal, excellent grades at school during the observation period; best corrected visual acuity right, left eye,near: 20/200, 20/100; orthoptic assessment: right microesotropia with eccentric fixation superior to the presumed foveolar; refraction: hyperopic astigmatism; neurological and endocrinological assessment: normal; visual acuity stable during the observation period up to 6y; fundus: bilateral severe optic nerve hypoplasia, signs of foveal hypoplasia and abnormal vessel distribution with tortuosity and drag of the retinal vessels towards the temporal side; peripheral retina: incomplete vascularization of the far peripheral retina, without visible signs of neovascularization; no sign of microphthalmia or microcornea; optical coherence tomography: significantly reduced thickness of the retinal nerve fiber layer as well as the ganglion cell and inner plexiform layers; grade 2 hypoplasia with absent extrusion of plexiform layers and absent foveal pitmeasurements right/left eye: total macular volume, mm3: 7.28/not available; central macular thickness, um: 278/not available; ganglion cell layer and the inner plexiform layer, mm3: 0.33/not available; retinal nerve fiber layer thickness, um: 28/not available; optic nerve head diameter: not available (hypoplasia)/not available |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
optic nerve hypoplasia |
| Age/Examination |
3y (3 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-09-07 10:25:25 +02:00 (CEST) |
| Date last edited |
N/A |
|
