Phenotype #0000299761

Individual ID 00407592
Associated disease -
Phenotype details 3y: best corrected visual acuity right, left eye: 20/1000, 20/1000, refraction (spherical equivalent): +9, electroretinogram: not detectable, renal disease: none; 12y: best corrected visual acuity right, left eye: hand motions, hand motions, refraction (spherical equivalent): +5, electroretinogram: not performed, renal disease: none; 19y: best corrected visual acuity right, left eye: light perception, light perception, electroretinogram: not performed, renal disease: elevated creatinine level
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 2022-04-06 19:14:38 +02:00 (CEST)
Date last edited N/A

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