The natural history of retinal degeneration in association with cobalamin C (cbl C) disease

Andrew M. Schimel, Marilyn B Mets*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

27 Scopus citations

Abstract

Purpose: To describe the association between retinal degeneration and cobalamin C (cblC) disease and to review previously published ophthalmic data regarding cblC disease. Methods: Descriptive case series of three patients and compilation of all previously reported cases of cblC disease in the ophthalmic literature. Results: All three new cases presented with macular pigmentary changes and showed attenuation of electroretinographic responses. Sequential ERG (electroretinogram) testing in Case 1 demonstrated ERGs that began at the lower limits of normal and became progressively attenuated over time. Conclusions: Cobalamin C disease results in progressive retinal degeneration with its onset in the first few months of life and progressing rapidly over the first few years of life.

Original languageEnglish (US)
Pages (from-to)9-14
Number of pages6
JournalOphthalmic Genetics
Volume27
Issue number1
DOIs
StatePublished - Mar 1 2006

Keywords

  • cblC disease
  • Cobalamin C disease
  • Electroretinograph
  • Homocystinuria
  • Methylmalonic aciduria
  • Retinal degeneration

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

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