Phenotype #0000300207

Individual ID 00408079
Associated disease -
Phenotype details night blindness by the age of 3y; visual field progressively constricted to become tubular; fundus: initially normal and gradually displayed a salt and pepper appearance with a reduction in blood vessel diameter and a typical appearance of RP rapidly progressing to retinal atrophy
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Leber congenital amaurosis
Age/Examination 25y (25 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 2022-04-13 15:04:56 +02:00 (CEST)
Date last edited N/A

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