An unusual presentation of Muscle-Eye-Brain disease: Severe eye abnormalities with mild muscle and brain involvement

Ercan Demir, Kivilcim Gucuyener, Aysima Akturk, Beril Talim, Oznur Konus, Roberto Del Bo, Serena Ghezzi, Giacomo P. Comi

Research output: Contribution to journalArticlepeer-review

Abstract

Muscle-eye-brain disease (MEB) is characterised by congenital muscular dystrophy, structural brain malformations and eye abnormalities. We report a MEB case whose presenting sign was congenital blindness. She was investigated primarily for eye abnormalities at onset. She had bilateral retinal detachment and microphthalmia. Mild axial hypotonia and motor retardation were attributed to cerebral disorder in another center. Muscle biopsy showed mild myopathic changes and significant α-dystroglycan deficiency. Analysis of the POMGnT1 showed a novel homozygous mutation 1814G>C, causing p.Arg605Pro change. This case expands the clinical spectrum of MEB with unusually severe eye abnormalities compared to mild skeletal muscle and brain involvement.

Original languageEnglish
Pages (from-to)692-695
Number of pages4
JournalNeuromuscular Disorders
Volume19
Issue number10
DOIs
Publication statusPublished - Oct 2009

Keywords

  • MEB
  • Mild phenotype
  • Severe eye abnormalities

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

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