Global Variome shared LOVD

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

Phenotype #0000307960 Individual ID 00416195 Associated disease - Phenotype details phenotyping data, right/left eye: axial length (mm): 22.86/22.95; visual acuity (LogMAR): 1; refraction (spherical equivalent):+2.25/+2.25; optical coherence tomography, baseline age: 22y, follow-up time: 8.1y, ellipsoid zone grade (described in Sundaram et al.., 2014): 4/5, ellipsoid zone width, baseline (um): 671/612, rate of EZ loss (um/year): 4/9; fundus autofluorescence, baseline age: 25y, follow-up time: 4.2y; rate of Increase in decreased autofluorescence (mm2/y): 0.03/0.02; rate of ring increase (mm2/y): 0.01/0.01; evidence of progression: no Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 30y1m (30 years, 1 month) 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 2022-08-24 10:51:33 +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.