Phenotype #0000298715

Individual ID	00406217
Associated disease	-
Phenotype details	chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 0,7 / 0,4, refractive errors (diopters) right/left eye: +1.5 / -0.5; fundus: atrophy along the arcade (slight), peripheral atrophy, foveal sparing, fundus autofluorescence: ring of high density, petaloid changes of high density at the macula (left eye),spectral domain optical coherence tomography: outer retinal disruption at in the peri-macula, preservation of ellipsoid zone line at the fovea, intraretinal minor cystic changes (right eye)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	41y (41 years)
Age/Diagnosis	-
Age/Onset	37y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-03-25 16:05:43 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD