Phenotype #0000308368

Individual ID	00416858
Associated disease	MCLMR
Inheritance	Familial, autosomal dominant
Phenotype details	normal gestation and delivery; nystagmus, convergent strabismus, mild microcephaly at an early age; 3y: low visual acuity and strabismus of the right; occlusion of the left eye was tried for a short period without success and strabismus was corrected by surgery; 7y: best corrected visual acuity right, left eye: finger counting, 20/50; neurological examination: slight psychomotor retardation; computer tomography: no structural abnormalities of the brain and ventricles, nor any cerebral calcifications; skull circumference: 48 cm (<p2; second percentile); laboratory tests for metabolic disorders and toxoplasmosis: negative; 9y: fundus: prominent falciform retinal fold running from the optic disk to the inferior-temporal periphery in the right eye, some retinal vessels outside the fold and no abnormalities in the peripheral retina, some white tissue attached to the pars plana; left eye, areas of retinal pigmented epithelium atrophy and an abrupt termination of the temporal retinal vessels was observed in the equatorial area: the more peripheral part of the retina avascular showing some local areas of retinal pigment epithelium atrophy; during 17 years of follow-up, no significant changes in the anterior segments and fundi of both eyes noted, nor did visual acuity decline; died at 28y of a cause that is unrelated to the phenotype
Diagnosis/Initial	-
Age/Examination	28y (28 years)
Diagnosis/Definite	familial exudative vitreoretinopathy with microcephaly
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-08 13:27:49 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD

SH2B3 (SH2B adaptor protein 3)

Phenotype #0000308368