Phenotype #0000307831

Individual ID 00416065
Associated disease -
Phenotype details age at first exam (y): 11, age at last exam: 36; best corrected visual acuity best eye 1st exam: 0.16, last exam: 0.1; visual complaints: photophobia: severe ,nystagmus: yes; refractive error spherical equivalent: -1.5; color vision defects 1st exam: severe; macular appearance 1st exam: no foveal reflex, last exam: no; periphery last exam: normal; cone electroretinogram: no responses, last exam: no responses
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite complete achromatopsia
Age/Examination 36y (36 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 2022-08-22 17:22:08 +02:00 (CEST)
Date last edited N/A

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