Phenotype #0000291683

Individual ID 00398564
Associated disease -
Phenotype details visual acuity right/left eye: 0.94/0.92, fundus macular appearance: blunted foveal re���ex both eyes, color vision (anomaloscope): matched (47���73), electroretinography, scotopic: normal, single-���ash b-wave: severely reduced, 32-Hz flicker: non-detectable, spectral-domain optical coherence tomography: focal inner segment/outer segment junction of the photoreceptors disruption (small bubble) in the fovea, adaptive optics cone structure: Minimal cone inner segment structure, no visible outer
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 15y (15 years)
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 2022-01-06 18:51:58 +01:00 (CET)
Date last edited N/A

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