Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa

J AAPOS. 2018 Jun;22(3):242-244.e1. doi: 10.1016/j.jaapos.2017.12.011. Epub 2018 Mar 16.


Muscular dystrophy-dystroglycanopathy type A (MDDGA3), one of a group of diseases collectively known as congenital muscular dystrophies, is an alpha-dystroglycanopathy with characteristic brain and ocular abnormalities. We report the case of a 9-month-old boy with developmental delay whose family sought evaluation for esotropia. Subsequent examination, imaging, and testing revealed significant motor and cognitive delay, marked weakness with appendicular spasticity, and a diffuse brain malformation. In addition, the patient had poor visual acuity, nystagmus, optic nerve hypoplasia, bilateral retinal dysplasia and retinal dragging with a large vertical angle kappa, and an avascular peripheral retina. Genetic testing revealed two known heterozygous mutations in the POMGnT1 gene confirming MDDGA3. He was treated with botulinum toxin injections for his strabismus and continues to be followed, with planned laser ablation of the peripheral avascular retina.

Publication types

  • Case Reports

MeSH terms

  • Botulinum Toxins / therapeutic use
  • Esotropia / drug therapy
  • Humans
  • Infant
  • Injections, Intramuscular
  • Magnetic Resonance Imaging
  • Male
  • Molecular Diagnostic Techniques
  • Mutation*
  • N-Acetylglucosaminyltransferases / genetics*
  • Neurotoxins / therapeutic use
  • Retinal Dysplasia / diagnosis
  • Retinal Dysplasia / genetics*
  • Visual Acuity
  • Walker-Warburg Syndrome / diagnosis
  • Walker-Warburg Syndrome / genetics*


  • Neurotoxins
  • N-Acetylglucosaminyltransferases
  • protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
  • Botulinum Toxins