Phenotype #0000298229

Individual ID 00405732
Associated disease -
Phenotype details significant visual loss in both eyes at the age of 20 years; fundus: bilateral retinal pigment epithelium irregularities in the posterior pole with scattered yellowish flecks; neurosensory retinal detachment with subretinal fluid in the left eye on an optical coherence tomography image
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite autosomal recessive bestrophinopathy
Age/Examination -
Age/Diagnosis -
Age/Onset 57y
Phenotype/Onset decreased visual acuity left eye for 2 months
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-03-21 14:26:30 +01:00 (CET)
Date last edited N/A

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