Phenotype #0000307027

Individual ID 00415229
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/100 (+6.0 + 1.0 90deg), 20/100 (+6.0 +1.0 90deg); fundus: foveal atrophy; optical coherence tomography: foveal hypoplasia with no umbo formation, cone loss in the central fovea; color vision: achromatopsia; visual field: Normal; scotopic / photopic electroretinogram: normal /reduced; glare: yes; nystagmus: yes; progression: not available
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 59y (59 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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