Phenotype #0000308278

Individual ID	00416558
Associated disease	-
Phenotype details	best corrected visual acuity right, left eye: 20/32, 20/50, refraction: +1.0/-2.75 x 94 deg, -1.5/-2.25 x 70 deg, further ophthalmic findings: pseudophakia and capsular phimosis, systemic features: hypertonia, electroretinogram: scotopic: extinguished, photopic: extinguished
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	>40y (later than 40 years)
Age/Diagnosis	-
Age/Onset	<18y
Phenotype/Onset	nyctalopia
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-05 13:13:43 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD