Phenotype #0000299863

Individual ID 00407716
Associated disease -
Phenotype details retinal dystrophy affecting both rods and cones with onset of symptoms in early childhood (2-4 y) and progression to legal blindness in early adulthood (18-25 y); fundus: pronounced attenuation of retinal arterioles and intraretinal bone spicule pigmentation; electroretinogram: extinguished at the time of the first investigation
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Leber congenital amaurosis
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-07 22:52:37 +02:00 (CEST)
Date last edited N/A

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