Phenotype #0000306969
| Individual ID |
00415169 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right, left eye: 20/400, 20/200; refractive error right, left eye: +16.75 D, +14.0 D in the left eye; progressive nyctalopia and decreasing visual acuity since infancy; anterior segment: normal; intraocular pressure right, left eye: 14, 11 mmHg; biometry: reduced axial length right/left eye: 15.5 /16 mm; funduscopy: blunted foveal reflexes, cystic lesions, retinal pigment epithelium mottling, and atrophy at the central macula; fundus autofluorescence: small hyperfluorescent dots distributed over the entire macula with the highest density in the inferior perifoval region of both eyes; spectral domain optical coherence tomography: increased foveal thickness, right/left eye: 538 / 545 μm; foveal B scans: areas of low reflectivity due to multiple cysts located predominately in the ganglion cell layer and the inner and outer nuclear layers; ultrasonography: highly reflective optic nerve head drusen in both eyes; electrophysiology: dim flash dark adapted electroretinograms (DA 0.01): nt detectable, bright flash dark adapted electroretinograms (DA 10.0): marked a wave reduction, in keeping with loss of rod photoreceptor function; photopic flicker and single flash electroretinograms: delayed, amplitude reduction, indicating generalised retinal cone system dysfunction; pattern electroretinograms: subnormal P50s in both eyes and loss of N95 in the left eye |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome |
| Age/Examination |
7y (7 years) |
| Age/Diagnosis |
- |
| Age/Onset |
<1y |
| Phenotype/Onset |
progressive nyctalopia and decreasing visual acuity |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-08-09 11:23:44 +02:00 (CEST) |
| Date last edited |
N/A |
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