Phenotype #0000306912
| Individual ID |
00415111 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity: 20/200; refractive error: +16.75; intraocular pressure 12 mmHg - both eyes; normal horizontal corneal diameters (11.5 mm), no anterior chamber angle anomalies; progressive nyctalopia and decreasing visual acuity since infancy; funduscopy: very small optic cups (<20%), cystic lesions on macular areas, diminished foveal reflex in both eyes, and retinal pigmented epithelium mottling and atrophy mainly at posterior pole and peripheral retina in both eyes; no clinical evidence of retinoschisis; fluorescein retinal angiography: showed transmission defects corresponding to the observed mottled areas of retinal pigmented epithelium atrophy; electroretinogram: abolished scotopic light response in both eyes, photopic response recordable but subnormal in both eyes; electrooculography Arden ratios right, left eye: 144%, 108% (normal values: 180%–200%); ultrasonography: eye axial length right/left eye: 14.79 / 14.65 mm, optic nerve drusen and thickened choroid in both eyes; optical coherenctomography: increased foveal thickness right/left eye: 331 um / 317 um, hyporeflective images of cystic appearance, splitting of inner retinal layers |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome |
| Age/Examination |
18y (18 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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