Phenotype #0000306353

Individual ID 00414553
Associated disease -
Phenotype details strabismus; intermittent esotropia (stereopsis 3/9); nystagmus; initial refractive error (spherical equivalent) right / left eye: -3.50 / -3.5; systemic studies: yes (magnetic resonance imaging normal); nyctalopia, age: toddler; age; best corrected visual acuity right, left eye: 4y ; 20/40 (0.301) ; 20/30 (0.176); age; best corrected visual acuity (Snellen/logMAR) right, left eye: 15y20/20 (0.000);, 20/20 (0.000); refractive error (spherical equivalent) right; left eye: -13.50;-14; color discrimination: full; fundus: optic nerve: tilted; myopic; Goldmann visual field: mild I-2e depression (full to I-4e) both eyes; small central scotoma both eyes; sensitivity threshold test: -29.2;-27.4; full field electroretinography: electronegativedark adaptation 3.0 ERG; spectral-domain optical coherence tomography macula, central subfield thickness (um), central volume (mm2) right / left eye: ND
Diagnosis/Initial infantile nystagmus
Inheritance Familial, autosomal recessive
Diagnosis/Definite congenital stationary night blindness
Age/Examination 15y (15 years)
Age/Diagnosis <10y
Age/Onset >8m
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-07-29 10:40:46 +02:00 (CEST)
Date last edited N/A

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