Phenotype #0000306913
| Individual ID |
00415112 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right, left eye: 20/200, 20/100; refractive error: +16.75 both eyes, intraocular pressure: 12 mmHg, normal horizontal corneal diameters (11.5 mm), no anterior chamber angle anomalies; progressive nyctalopia and decreasing visual acuity since infancy; cystic lesions on macular areas, diminished foveal reflexes, retinal pigmented epithelium mottling and atrophy mainly at posterior pole and peripheral retina in both eyes; no clinical evidence of retinoschisis; fluorescein retinal angiography: diffuse transmission defects corresponding to the observed areas of retinal pigmented epithelium mottling and atrophy electroretinogram: a subnormal scotopic light response in right eye and an abolished response in left eye. optical coherence tomography: increased foveal thickness right/left eye: 399 um / 409 um; hyporeflective images of cystic appearance, apparent splitting of inner retinal layers; electrooculography Arden ratios right, left eye: 122%, 116%; ultrasonography: axial length right/left eye: 14.93 / 14.67 mm; optic nerve drusen and thickened choroids in both eyes |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome |
| Age/Examination |
16y (16 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 12:38:59 +02:00 (CEST) |
| Date last edited |
N/A |
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