Phenotype #0000298581

Individual ID	00406083
Associated disease	-
Phenotype details	best-corrected central visual acuity: 20/200 both eyes; fundus examination: bull's eye macular atrophy and diffuse retinal pigmentary changes in both eyes; fundus autofluorescence: large area of hypoautofluorescence of the foveal and para-foveal area extending to perifoveal area; full field electroretinography: severely decreased scotopic rod and maximum combined rod/cone responses in addition to depressed photopic cone responses, amplitudes of oscillatory and 30-Hz flicker responses decreased as well; macular optical coherence tomography: disruption of outer segment and outer nuclear layer with thinning of outer plexiform, and inner layers in foveal and parafoveal areas extending to perifoveal area
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	cone-rod dystrophy
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	5y
Phenotype/Onset	gradually decreasing vision in both eyes
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-03-25 14:43:22 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD