Phenotype #0000307581

Individual ID 00415803
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/200, 20/160; refraction right, left eye: -6.0, -6.0; fundus: normal; optical coherence tomography: normal; fundus autofluorescence: no data; color vision (test method): no data; full-field electroretinogram: photopic: no response flicker: no response scotopic: normal; photophobia: yes; nystagmus: no data
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 39y (39 years)
Age/Diagnosis -
Age/Onset <8y
Phenotype/Onset early childhood: low vision, photophobia
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-16 14:45:23 +02:00 (CEST)
Date last edited N/A

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