Phenotype #0000291739

Individual ID 00398656
Associated disease -
Phenotype details visual acuity left, right eye: 20/200, 20/200, retinoscopic refraction, spherical equivalent: +2.50, +1.25, fundus appearance: no foveal light reflex, full-field electroretinography, scotopic/photopic: normal/severely reduced and prolonged, no foveal hypoplasia, foveal ellipsoid zone: disrupted with hyporeflective zone
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 4y11m (4 years, 11 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-01-08 20:21:17 +01:00 (CET)
Date last edited N/A

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