Phenotype #0000297458

Individual ID	00404899
Associated disease	-
Phenotype details	best-corrected visual acuity (BCVA) right/left eye: 0.9/0.3, refraction: S + 0.5 C-1.25 at 180 /S + 0.5 C-2.0 at 175; axial length: 23.71/23.85 mm; intraocular pressure and anterior ocular segments: normal, fundus: cystoid macular lesion, multiple yellowish deposits throughout the posterior pole of both eyes, vitelliform lesions not observed, FAF imaging showed multiple hyper-autofluorescent spots in the peripheral retina of both eyes, and the site of the spots corresponded with the yellowish deposits observed by ophthalmoscopy; fundus autofluorescence: hypoautofluorescent lesion in the maculae of both eyes; fluorescein angiography: widespread patchy hyper-fluorescence; spectral-domain optical coherence tomography: cystoid changes in the macula and shallow serous retinal detachments in both eyes, thickening and hyper-reflectivity at the areas corresponding to ellipsoid and interdigitation zones of the photoreceptors amplitudes of both the cone and rod full-field electroretinograms were reduced; amplitudes of the multifocal electroretinograms:r educed in the central and peripheral sectors of both eyes; electro-oculography Arden: 1.1 in both eyes with a dark trough 15 min after beginning the measurements and a light peak 15 min from the beginning of the light phase
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	autosomal recessive bestrophinopathy
Age/Examination	25y (25 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-03-10 14:21:11 +01:00 (CET)
Date last edited	N/A