Bradyopsia
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 75374
Definition
Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.
Epidemiology
It has been described in five unrelated patients with symptoms present since childhood.
Etiology
The disorder is caused by recessive mutations in the RGS9 (chromosome 17q23-q24) or R9AP (chromosome 19q13.11) genes.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
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