Phenotype #0000302396

Individual ID 00410291
Associated disease -
Phenotype details night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-23 13:20:58 +02:00 (CEST)
Date last edited N/A

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