Phenotype #0000315333

Individual ID 00424126
Associated disease -
Phenotype details age, first / last exam: 37; visual acuity right eye first; last visit, left eye first; last visitn/a; kinetic visual fields (V4e): central scotomas contiguous with superior peripheral loss; full field electroretinography: rods: nondetectable, cones: severely depressed
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination -
Age/Diagnosis -
Age/Onset 16y
Phenotype/Onset nyctalopia
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-11-17 13:39:56 +01:00 (CET)
Date last edited N/A

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