Phenotype #0000300074

Individual ID	00407944
Associated disease	-
Phenotype details	best corrected visual acuity: light perception both eyes, globes sunken, with approximately 30delta exotropia and approximately 20 delta bilateral hypotropia by Krimsky testing; child could not elevate his eyes voluntarily; no true ptosis; horizontal ductions and infraduction: full; cycloplegic refraction right/left eye: +3.50 -1.00 x 045 / +3.50 -2.00 x150; fundus: attenuated arterioles, diffuse retinal pigment epithelium atrophy with fine stippling and a reticulated appearance, relative peripapillary sparing, peripheral intraretinal pigment migration, and central macular atrophy; electroretinogram: nonrecordable.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	5y (5 years)
Age/Diagnosis	5y
Age/Onset	5m
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-11 13:19:42 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD