Phenotype #0000301985

Individual ID 00409871
Associated disease -
Phenotype details nyctalopia, visual field constriction, reduced vision, photophilia, poor color vision, prolonged photopic to mesopic adaptation; best corrected visual acuity right/left eye: hand movement/1.80; electroretinography (pattern): severe bilateral macular dysfunction, full-field: severe photoreceptor dysfunction
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite early onset retinal dystrophy
Age/Examination 41y (41 years)
Age/Diagnosis -
Age/Onset 1y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-13 10:41:21 +02:00 (CEST)
Date last edited N/A

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