Phenotype #0000306857

Individual ID	00415056
Associated disease	-
Phenotype details	best corrected visual acuity right, left eye: 20/200, 20/100; anterior segment findings: horizontal corneal diameter: 11.2mm, 11.5mm, shallow anterior chamber and nairnw camerular angles both eyes; posterior segment findings: optic disc drusen, pigment clumping, and bone-spicule pigmentation both eyes; electroretinogram: extinguished rod responses and barely registrable cone responses both eyes; optical coherence tomography: diffuse macular thickening, outer retinal layers schisis with discrete bridging elements at the fovea (foveoschisis) both eyes
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen syndrome
Age/Examination	49y (49 years)
Age/Diagnosis	-
Age/Onset	24y
Phenotype/Onset	progressive impairment of night vision and bilateral progressive decrease in visual acuity
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-06 21:06:02 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD