Phenotype #0000302120

Individual ID 00410011
Associated disease -
Phenotype details onset of night blindness (years): 23, onset of visual field loss (years): 23; visual field: inferior hemifield both eyes (25; best corrected visual acuity right/left eye: 0.5 both eyes (25); electroretinogram: cones and flicker: no response; rod and mixed: amplitude reduction (25); fundus: bone spicules and attenuation of vessels
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite retinitis pigmentosa
Age/Examination 36y (36 years)
Age/Diagnosis -
Age/Onset 23y
Phenotype/Onset -
Protein upregulation of RHO promoter by p.M96T protein similar to that shown by other missense NRL mutations that cause adRP
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-17 15:02:13 +02:00 (CEST)
Date last edited N/A

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