Phenotype #0000302403

Individual ID	00410298
Associated disease	MDDGA3;MEB;WWS
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Age/Examination	3y (3 years)
Diagnosis/Definite	dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3
Age/Diagnosis	-
Age/Onset	3m
Phenotype/Onset	-
Phenotype details	9m: progressively increasing esotropia, initially diagnosed at 3 months of age, developmental delay; rapid and unsteady eye movements and torticollis; abnormal fetal magnetic resonance imaging: cerebral ventriculomegaly, cyanosis at birth, and global developmental delay, with central weakness and hypotonia; visual acuity (assessed by preferential looking testing) right, left eye: 20/130, 20/270; pupils: 3.5 mm and minimally reactive to light; cycloplegic refraction: -2.50 sphere bothe eyes; anterior segment: unremarkable; sensorimotor evaluation: pendular, horizontal nystagmus with occasional jerk-like movements, full ductions and versions, and 45D-50D of esotropia at near; fundus: pale and hypoplastic-appearing optic nerves, with anomalous vascular loops; retina had a dysplastic appearance, and the retinal vasculature (and presumed fovea) appeared to have been dragged inferiorly; vertical deviation was thus recognized to be a large vertical angle kappa � no focus of traction to explain the apparent retinal dragging; however, the peripheral retina was avascular in both eyes; laboratory evaluation: elevated creatine kinase at 3213 U/L; magnetic resonance imaging: low-volume cerebral white matter with a diffusely abnormal hyperintense T2 signal, polymicrogyria of the frontal lobes and perisylvian regions, cerebellar dysgenesis, pontine hypoplasia, and ventriculomegaly dystrophy; esotropia was treated with an injection of 5 units of botulinum toxin (onabotulinumtoxin A to each medial rectus muscle during the examination under anesthesia; presumed amblyopia was treated with 4 hours of daily patching of the right eye. Follow-up at 13m: visual acuity unchanged, persistent right eye fixation preference, myopia increased to -3.75 D sphere in both eyes; persistent V-pattern esotropia of 40D at near (Krimsky) was managed with a repeat injection of 5 units of botulinum toxin into both medial rectus muscles for the esotropia and additional 5 units into both inferior oblique muscles for the V pattern; minimal residual esotropia
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-23 15:18:38 +02:00 (CEST)
Date last edited	N/A