Phenotype #0000296664

Individual ID 00404072
Associated disease -
Phenotype details presenting visual acuity logMAR (age, y): 0.00 (10), 1.00, latest visual acuity logMAR (age, y): 0.78 (19), 0.7, refraction: +0.25/-0.25, 110, +1.25/-0.50, 5, electrooculogram: undetectable, pattern electroretinogram right/left eye: subnormal (19.5) / subnormal, full-field electroretinogram: subnormal (19.5) subnormal
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite autosomal recessive bestrophinopathy (ARB)
Age/Examination -
Age/Diagnosis -
Age/Onset 10y
Phenotype/Onset headache, no visual loss
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-02-25 21:42:46 +01:00 (CET)
Date last edited N/A

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