Phenotype #0000307333
| Individual ID |
00415553 |
| Associated disease |
- |
| Phenotype details |
3y: congenital nystagmus and low vision; unrelated parents, born at term after an uncomplicated pregnancy; father red-green color-blind with normal vision, paternal cousin had congenital nystagmus; alternating esotropia and pendular, coarse, horizontal nystagmus present; cycloplegic retinoscopy of the right/left eye: +6.0 D / +8.0; best corrected visual acuity: 0.2; fundus: normal, except for absent foveal reflexes and a slight grayish discoloration in the perifoveal region; 16y: moderate photophobia and some difficulties with color discrimination; best corrected visual acuity right/left eye: 0.1 / 0.1; emmetropia; fundus: golden foveal reflex; identified none of the Ishihara plates, except for the first, but able to name 17 standard colors (DS735) correctly, identified six plates of the AOHRR screening series - mild red-green defect; F-M D-15: with diagonal errors in axes between deutan and scotopic; failed to identify any colors in Berson's blue cone monochromacy test; Nagel anomal; full-field electroretinogram: slightly subnormal scotopic recordings of rod-generated signals in contrast to a complete absence of the cone-elicited flicker, white single flashes on the light-adapting background generated a rod-like response, blue cone signal completely, narrow bandpass filtering - a rudimentary cone flicker response of 0.5 uV; multifocal electroretinogram: no recognizable cone pattern; remaining eye examination, including Goldmann perimetry: unremarkable 30y: refraction: right / left eye:+6.0 D / +7.0 D; best corrected visual acuity right/left eye: 0.05 / 0.1 otherwise status unchanged |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
achromatopsia |
| Age/Examination |
31y (31 years) |
| Age/Diagnosis |
- |
| Age/Onset |
00y00m |
| Phenotype/Onset |
congenital nystagmus |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-08-15 13:27:53 +02:00 (CEST) |
| Date last edited |
2024-09-30 16:02:01 +02:00 (CEST) |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
