Phenotype #0000306351
| Individual ID |
00414551 |
| Associated disease |
- |
| Phenotype details |
exotropia (stereopsis 8/9), initially had orthophoria and then developed exophoria; no nystagmus; initial refractive error (spherical equivalent) right / left eye: -8.25 / -7.75; systemic studies: yes (Stickler syndrome evaluation); nyctalopia, age: none reported; age; best corrected visual acuity right, left eye: 5y ; 20/20 (0.000) ; 20/25 (0.097); age; best corrected visual acuity (Snellen/logMAR) right, left eye: 9y20/20 (0.000);, 20/20 (0.097); refractive error (spherical equivalent) right; left eye: -9.00;-8; color discrimination: full; fundus: optic nerve: tilted; myopic, cystic retinal tuft right eye; Goldmann visual field: mild I-2e depression (full to I-4e) both eyes; sensitivity threshold test: -26.6;-28.9; full field electroretinography: electronegativedark adaptation 3.0 ERG; spectral-domain optical coherence tomography macula, central subfield thickness (um), central volume (mm2) right / left eye: 237 um, 7.85 mm2 / 236 um, 7.82 mm2 |
| Diagnosis/Initial |
pathologic myopia |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
congenital stationary night blindness |
| Age/Examination |
9y (9 years) |
| Age/Diagnosis |
<3y |
| Age/Onset |
>8m |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-07-29 10:40:46 +02:00 (CEST) |
| Date last edited |
N/A |
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