Phenotype #0000307825

Individual ID 00416059
Associated disease -
Phenotype details age at first exam (y): 6, age at last exam: 51; best corrected visual acuity best eye 1st exam: 0.4, last exam: 0.16; visual complaints: photophobia: yes ,nystagmus: yes; refractive error spherical equivalent: -11; color vision defects 1st anot determined last exam: severe; macular appearance 1st exam: no foveal reflex, last exam: mild pigmentary changes; periphery last exam: normal; cone electroretinogram 1st exam: reduced, last exam: no responses
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite early-onset cone dystrophy
Age/Examination 51y (51 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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