Phenotype #0000308340
| Individual ID |
00416620 |
| Associated disease |
- |
| Phenotype details |
2.5y: esotropia, 4y: myopic astigmatism; 7y: hospital due to unexplained low vision despite corrective glasses and amblyopia treatment; cognitively normal, excellent grades at school; best corrected visual acuity right, left eye, distance: 20/100, 20/200; near: 20/80, 20/100; left microesotropia; refraction: myopic astigmatism; neurological and endocrinological assessment: normal; visual acuity stable during the observation period up to 11y; 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; 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 1 foveal hypoplasia with absent extrusion of plexiform layers and a shallow foveal pit; cerebral magnetic resonance imaging: severely hypoplastic optic nerves within small optic nerve sheaths; no abnormalities of midline structures or other brain areasmeasurements right/left eye: total macular volume, mm3: not available/7.53; central macular thickness, um: not available/284; ganglion cell layer and the inner plexiform layer, mm3: not available/not available; retinal nerve fiber layer thickness, um: not available/not available; optic nerve head diameter: not available (hypoplasia)/not available |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
optic nerve hypoplasia |
| Age/Examination |
7y (7 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 |
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