Phenotype #0000308277

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00416557
Associated disease	-
Phenotype details	best corrected visual acuity right, left eye: 20/25, 20/63, refraction: plano/-0.75 x 113 deg, plano/-1.0 x 71 deg, further ophthalmic findings: glaucoma and pseudophakia, systemic features: hypertonia, electroretinogram: scotopic: extinguished, photopic: extinguished
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	>45y (later than 45 years)
Age/Diagnosis	-
Age/Onset	<15y
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