Phenotype #0000297146

Individual ID 00404556
Associated disease -
Phenotype details measurements right / left eye: visual acuity (refractive error): 0.2 (6.00) / 0.16 (6.00), electroretinography, photopic: normal; abnormally prolonged latency of cone responses / abnormal; abnormally prolonged latency of cone responses, electroretinography, scotopic: normal; abnormally prolonged latency of cone responses / abnormal; abnormally prolonged latency of cone responses, electrooculogram Arden ratio: 1 / 1; fundus: both eyes: Yellowish scrambled-egg lesions in macula, patchy midperipheral retinal atrophy
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite autosomal recessive bestrophinopathy (ARB)
Age/Examination 43y (43 years)
Age/Diagnosis -
Age/Onset 2y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-03-03 14:07:53 +01:00 (CET)
Date last edited N/A

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