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Retinal detachments
Description: Retinal pigment epithelial dysplasia causing localized multifocal retinal detachments
Symptoms : In the mild form, no vision disorders are reported despite the abnormal retina. In the severe form, lesions can lead to blindness
Age of onset : Before 4 months old
Frequency : Not available
Gene involved : BEST1
Tested mutation : c.73C>T
Transmission : Autosomal Recessive
Patent : _
Notes : _
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