Phenotype #0000307038

Individual ID	00415240
Associated disease	-
Phenotype details	distance visual acuity right, left eye: 20/200, 20/400; no ocular misalignment, bilateral, symmetrical pendular nystagmus; refractive error right, left eye: +7.00, +7; anterior segment and pupillary examination: normal; intraocular pressure right / left eye: normal (9 mm Hg / 12 mm Hg); funduscopy: pigmentary changes in the macular region of both eyes, peripheral retinae appeared relatively normal and without obvious pigmentation, and mildly narrowed retinal arterioles; electroretinogram: very poor single flash electroretinogram responses featuring no significant a- or b-waves, 30-Hz flickers present but at very low amplitude; visual evoked potentials: within normal ranges; spectral domain optical coherence tomography: poor foveal contours with some apparent retention of the inner layers of the retina, patchy loss of the ellipsoid zone in both foveae; fluorescein angiography: window defects in both foveae and possibly an area of avascular retina in the temporal periphery in the right eye; no syndromic abnormalities
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	early onset photoreceptor degeneration with macular involvement
Age/Examination	2y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	congenital nystagmus, poor visual behavior
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-10 14:27:30 +02:00 (CEST)
Date last edited	N/A