Phenotype #0000306924
| Individual ID |
00415123 |
| Associated disease |
- |
| Phenotype details |
started wearing glasses at age 7y, vision did not improve; best corrected visual acuity and refraction right / left eye: 0.2 [+15.0 diopters (D)] / 0.2 (with +13.0 D); intraocular pressure: 15 mmHg both eyes; no nystagmus; corneal diameter: 11.0 mm, anterior chamber depth: normal; fundus: crowded optic discs, dilation and tortuosity of the retinal vessels, absence of a normal foveal pit and presence of retinal folds; no signs of retinitis pigmentosa or optic disc drusen; optical coherence tomography: no foveal depression and no signs of macular cysts or foveoschisis in either eye; fluorescein retinal angiography: foveal avascular zone poorly developed, suggestive of foveal hypoplasia; full-field electroretinograms under dark-adapted and light-adapted conditions: amplitude and implicit time of aand b-waves - within normal limits; Goldmann perimeter: expansion of the Mariotte blind spot both eyes; B-mode ultrasonographic examinations: axial length right / left eye: 18.9 mm / 17.5 mm; magnetic resonance imaging: short axial lengths in both eyes and no abnormal findings in either the brain or orbit |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
posterior microphthalmos |
| Age/Examination |
9y (9 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 |
2022-08-08 15:18:34 +02:00 (CEST) |
| Date last edited |
N/A |
|
