Phenotype #0000304883

Individual ID	00412897
Associated disease	-
Phenotype details	best corrected visual acuity and refraction right, left eye:20/63 plano (-3) 180deg, 20/50 plano (-1.75) 180deg; color vision (15 desaturated hue): deutan defect on both eyes; binocular kinetic visual field (III4e stimulus): reduced to 10 degrees x 20 degrees; full field and multifocal electroretinography: both undetectable; fundus: pale optic disc head, narrowed retinal vessels, and retinal pigment epithelium changes in the periphery with some macular atrophic changes; fundus autofluorescence:hypoautofluorescence in the macular region and outside the vascular arcades; spectral domain optical coherence tomography: thinning of outer retina in the macular region
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	31y (31 years)
Age/Diagnosis	-
Age/Onset	<12y
Phenotype/Onset	night blindness
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-06 14:25:54 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD