Phenotype #0000307031

Individual ID 00415233
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/200 (0.0 -4.0 180deg), 20/200 (0.0 -4.5 170deg); fundus: dull foveal reflex with retinal pigment epithelium changes at the fovea; optical coherence tomography: no foveal impression, no subfoveal inner outer segment border; color vision: achromatopsia; visual field: not available; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: yes; progression: not available
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 41y (41 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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