Phenotype #0000291722

Individual ID 00398635
Associated disease -
Phenotype details best corrected visual acuity: right eye, 20/200, left eye, 20/200, full-field photopic electroretinography right /left eye: a wave, b wave, flicker: nonrecordable/nonrecordable, nonrecordable/nonrecordable, nonrecordable/nonrecordable, optical coherence tomography: mild foveal atrophy without cavitation both eyes, fundus autofluorescence: normal
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 11y (11 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 2022-01-07 19:12:05 +01:00 (CET)
Date last edited N/A

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