Phenotype #0000300158

Individual ID	00408028
Associated disease	-
Phenotype details	refraction at baseline right/left eye: +1.50 x -0.50 x 100 / + 3.00 x -1.50 x 55, best corrected visual acuity: 20/200; 17y: acute change in vision from baseline, described as seeing a black cloud with loss of central vision in the right eye; best corrected visual acuity: 20/400. spectral domain optical coherence tomography and fluorescein angiography: diagnosis of type 2-choroidal neovascularization; treatment with one intravitreal ranibizumab injection; two months later improved vision with visual acuity eturning to baseline at 20/200
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	early onset retinal degeneration
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-11 19:32:55 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD