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Ophthalmic findings in an infant with phosphomannomutase deficiency

Wyatt B Messenger1, Paul Yang, Mark E Pennesi

  • 1Casey Eye Institute, Oregon Health and Science University, 3375 SW Terwilliger Blvd, Portland, OR, 97239, USA.

Documenta Ophthalmologica. Advances in Ophthalmology
|February 5, 2014
PubMed

Insights

Congenital disorder of glycosylation type 1a (PMM2-CDG) in an infant caused severe vision impairment. Full-field electroretinography (ff-ERG) and SD-OCT revealed significant retinal dysfunction and structural changes.

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Congenital disorder of glycosylation type 1a (PMM2-CDG) is a rare inherited metabolic disorder.
  • Ocular manifestations can be a significant feature of PMM2-CDG.

Observation:

  • A 14-month-old infant with PMM2-CDG presented with failure to thrive, hearing loss, and cerebellar hypoplasia.
  • Ophthalmic examination revealed esotropia, myopia, hypopigmented macula, and attenuated retinal vasculature.

Findings:

  • Full-field electroretinography (ff-ERG) demonstrated severe rod and cone dysfunction with a negative waveform.
  • Spectral domain optical coherence tomography (SD-OCT) showed outer retinal thinning, with foveal sparing.

Implications:

  • ff-ERG and SD-OCT are valuable tools for detecting early retinal changes in PMM2-CDG.
  • These findings highlight the importance of comprehensive ophthalmic evaluation in infants with PMM2-CDG.
Abstract

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