Phenotype #0000307025

Individual ID 00415227
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/160 (+4.25 +0.75 92deg), 20/160 (+2.0 +1.25 92deg); fundus: bull's eye maculopathy; optical coherence tomography: not available; color vision: incomplete achromatopsia; visual field: not available; scotopic / photopic electroretinogram: normal /reduced; glare: yes; nystagmus: currently convergence controlled nystagmus; progression: not available
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 17y (17 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 2022-08-10 13:22:10 +02:00 (CEST)
Date last edited N/A

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