Phenotype #0000295808

Individual ID	00403061
Associated disease	-
Phenotype details	visual acuity: nearly normal and stable over the past 3 years; contrast sensitivity: reduced both eyes; funduscopy: multiple yellowish-white, round, partially confluent lesions at the posterior pole and around the optic nerve with a well-demarcated edge; lesions were predominant around the vascular arcades and the fovea; left eye: two areas with subretinal fibrosis; full-field electroretinogram: delayed rod and rod-cone b-wave responses in both eyes, rod b wave responses did not return to baseline within the recording window used, amplitudes within normal limits, isolated rod photoreceptor responses using the bright flash stimulus: normal implicit time and amplitudes; pronounced negativity prior to op1 in both eyes; multifocal electroretinogram: responses reduced and delayed within the central 10deg; electro-oculogram: markedly reduced arden ratio in both eyes with a dark trough after 8 min (amplitude 1.92 uv) and light peak 6 min from the start of the light phase; retinal microstructure - macular scans: round- or dome-shaped deposits within the retinal pigment epithelium (RPE) reaching into the subretinal space. large deposits extended up to the outer plexiform layer in the left eye; retinal pigment epithelium thinning throughout the macula; photoreceptor layers detached from the retinal pigment epithelium; photoreceptor outer segments were thicker and elongated; small filament-like bridges visible between the photoreceptor outer segment layer and the retinal pigment epithelium; verhoeff's membrane, the interface between cone photoreceptors and the retinal pigment epithelium, was not identifiable in multiple scans of both eyes; inner retinal layers were unaffected
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	autosomal recessive bestrophinopathy (ARB)
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-02-16 13:16:15 +01:00 (CET)
Date last edited	N/A