Global Variome shared LOVD

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

Phenotype #0000314445 Individual ID 00423240 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/200, 20/250; macular clinical findings: normal; macular optical coherence tomography characteristics: normal; electroretinography, scotopic- 0 dB stimulus: a-wave: 93 uV amplitude, (reduced) 18.25 ms implicit time; b-wave: 251.5 uV amplitude, (reduced) 51.5 ms implicit time, photopic- cone flicker: 13 uV amplitude, (reduced) 31.5ms implicit time; visual field, continuous horizontal degrees (V4e isopter): 80 deg right eye and 110 deg left eye Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 9y (9 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 2022-11-14 12:34:03 +01:00 (CET) Date last edited N/A

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