Phenotype #0000307905

Individual ID 00416139
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 0.1/0.16; electroretinogram signals, scotopic: borderline normal, photopic: severely reduced; color vision: impaired; optical coherence tomography: retinal pigment epithelium, outer segments of the photoreceptors absent, outer limiting membrane present, , inner limiting membrane present, ; nystagmus, past: yes, at present: yes; photophobia: yes
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 19y (19 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 2022-08-23 17:29:26 +02:00 (CEST)
Date last edited N/A

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