Phenotype #0000306999

Individual ID	00415201
Associated disease	-
Phenotype details	best corrected visual acuity right/left eye: 20/25/20/35; refraction right/left eye: +19 OD/+19 OS; axial length, mm: 15.64/15.72; horizontal corneal diameter, mm: 11.6/11.9; anterior chamber depth, mm: 3.19/3.07; average macular thickness: 319.3/327.6; average retinal nerve fiber layer thickness: 116/108; fundus appearance and fluorescein angiography both eyes: retinitis pigmentosa, papillomacular retinal fold, absence of the capillary-free zone, crowded optic disc; optical coherence tomography: diffuse macular thickening, outer retinal layer schisis, papillomacular retinal fold; electroretinography: moderate rod and cone responses both eyes
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	posterior microphthalmos-renititis pigmentosa-foveoschisis syndrome without optic disk drusen
Age/Examination	22y (22 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-10 10:11:10 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD