Phenotype #0000296714

Individual ID	00404125
Associated disease	-
Phenotype details	best corrected visual acuity right, left eye: 20/32, 20/50; fundus: vitelliform disc in the vitelliruptive stage in the macular area in both eye; left eye: two extrafoveal additional vitelliform discs in the temporal area at the posterior pole; . electroculogram Arden ratio: 1.00, 1.12; photopic electroretinographic response was within normal limits, scotopic showed a reduced amplitude (about 25% compared with the average values of the control group), 2008, patient developed choroidal neovascularization with macular hemorrhage in left eye and received two photodynamic therapy treatments.; last examination (July 2010) BCVA: 20/50, 20/100; right eye fluorescein angiography showed a round hypofluorescent area due to the vitelliform disc, with irregular areas of hyperfluorescence related to localized retinal pigment epithelium atrophy, without dye leakage; in left eye, hyperfluorescent abnormalities were detected in the macular area, in association with staining of the fibrotic areas, without any sign of dye leakage; optical coherence tomography: scans passing through the macula both eyes: optically empty lesion with clumping of hyperreflective material on the posterior retinal surface and some irregular thickening of the RPE layer
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	autosomal recessive bestrophinopathy (ARB)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	6y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-02-27 23:25:19 +01:00 (CET)
Date last edited	N/A