Global Variome shared LOVD

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

Phenotype #0000307030 Individual ID 00415232 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/200 (-1.5+3.5 85deg), 20/100 (-1.5+2.75 105deg); fundus: dull foveal reflex with retinal pigment epithelium changes at the fovea ou, fine retinal pigment epithelium mottling left eye; optical coherence tomography: partial foveal hypoplasia; presence of optical gap (hyporeflectivity) at the fovea in both eyes; color vision: incomplete achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: nystagmus since infancy; now milder; progression: yes Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-10 13:22:10 +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.