Phenotype #0000307020

Individual ID 00415222
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/448 (-4.0 -4.25 10deg), 20/252 (-4.5 -4.00 2deg); fundus: mild peripapillary atrophy, small amount of foveal atrophy; optical coherence tomography: foveal hypoplasia,, inner/outer segment absence; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: pendular nystagmus at birth, now mild nystagmus; progression: no
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 47y (47 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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