Phenotype #0000296493

Individual ID	00403802
Associated disease	-
Phenotype details	best corrected visual acuity right/left eye: 0.09 logMAR (20/25) / 0.60 logMAR (20/80), hypermetropia (+4 dpt) both eyes; anterior segment: normal, intraocular pressure: 12 mm Hg both eyes; funduscopy: bilateral yellowish lesions scattered throughout the fundus, with multiple and partially confluent yellowish white deposits at the posterior pole; macula of the right eye (left eye similar) swollen, inferotemporal part of the fovea an area suggestive of subretinal fibrosis was present; left eye round yellowish lesion below the macula; fundus autofluorescence: multiple spots of hyperautofluorescence corresponding to the yellowish lesions noted on ophthalmoscopy; hypoautofluorescent area suggestive of subretinal fibrosis; fluorescein angiography: early widespread patchy hyperfluorescent areas due to retinal pigment epithelium atrophy and retinal leakage, more pronounced in the right eye than left eye, with evidence of subtle fluorescein accumulation within lesions in the late phase; indocyanine green angiography: revealed hyperfluorescent spots right eye 1 left eye corresponding to the areas of increased leakage through the RPE, evident hypofluorescent spots in the right eye corresponding to the retinal scar temporal to the macula; in the left eye, hyperfluorescent spots corresponding to the hyperfluorescent deposit below the fovea and near the superior retinal vascular arcade; optical coherence tomography: foveal neurosensory retinal detachment; dome-shaped elevated subretinal deposits in this area, sometimes expanding into the outer plexiform layer left eye / right eye (corresponding to the yellow lesion located below the fovea centralis in the left eye); photoreceptor outer segments were thickened and elongated in both eyes; small hyporeflective areas within the inner nuclear layer due to intraregional edema could be related to thickening of Muller cells (the thin septa separating these pseudocystic areas); scattered lesions outside the macula appeared on OCT scans either as small hyperreflective lesions between RPE and photoreceptors, or as a more pronounced thickening of the RPE/photoreceptor complex associated with a focal disruption of the layer corresponding to the inner segment/outer segment interface; full field electroretinography: normal; pattern ERG and 30-Hz flicker ERG: mildly reduced and delayed Arden ratios of the electrooculography both eyes: 1.25 with a dark trough after 9 min (amplitude 440 V), and a light peak 9 min from the start of the light phase (amplitude 550 V)).; multifocal ERG: reduced and delayed amplitudes within the central 25deg in both eyes, corresponding to the central lesion right eye: 1st ring 52.8 nV/degree2, 2nd ring 38.5 nV/degree2, 3rd ring 21.8 nV/degree2, 4th ring 14.7 nV/degree2, 5th ring 13.5 nV/degree2; left eye: 1st ring 40.1 nV/degree2, 2nd ring 17.1 nV/degree2, 3rd ring 15.1 nV/degree2, 4th ring 11.2 nV/degree2, 5th ring 8.1 nV/ degree2 (normal range 100–120 nV/degree2); frequency doubling technology visual field: several small areas of reduced sensitivity in the centr area corresponding to areas of retina edema and altered RPE
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	autosomal recessive bestrophinopathy
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-02-23 10:05:56 +01:00 (CET)
Date last edited	N/A