Muscle-eye-brain disease

Dr Henry Knipe and Dr Owen Kang et al.

Muscle-eye-brain disease is a congenital muscular dystrophy with associated progressive eye and brain abnormalities.

There is severe intellectual disability, in combination with seizures. Motor development is usually severely delayed. Eye abnormalities include choroidal hypoplasia, retinal degeneration, optic nerve hypoplasia, severe myopia and glaucoma.

Muscle-eye-brain disease is caused by a fault in O-mannosyl glycan synthesis.

It is an inherited autosomal recessive disease with marked phenotypic variability. The founder mutation is in the Finnish population (POMGNT1 mutations are most common).

No curative treatment is available. Management is supportive.

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Article information

rID: 66013
Section: Syndromes
Tag: cases, refs
Synonyms or Alternate Spellings:

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