Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000304880 Individual ID 00412894 Associated disease - Phenotype details best corrected visual acuity and refraction right, left eye:hand motion in both eyes; color vision (15 desaturated hue): examination impossible due to low vision; binocular kinetic visual field (III4e stimulus): reduced to peripheral islands of perception; full field and multifocal electroretinography: both undetectable; fundus: pale optic disc narrowed blood vessels, macular atrophic changes, and optic nerve drusen ; fundus autofluorescence:hypoautofluorescence in the macular region; spectral domain optical coherence tomography: thinning of outer retina in the macular region Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 42y (42 years) Age/Diagnosis - Age/Onset 6y Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-06 14:25:54 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.