Phenotype #0000299745

Individual ID 00407408
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 0.01/0.01, refractive error (diopter): hyperopia (+5.0 / +4.0); fundus: granular fundus (salt-and-pepper pigmentation); macula and optic disc normal, electroretinogram: nondetectable (1 year), perimetry: not available, kidney findings: normal
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Leber congenital amaurosis
Age/Examination 3y (3 years)
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 2022-04-06 16:39:51 +02:00 (CEST)
Date last edited N/A

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