Journal article
Anti-γ-enolase autoimmune retinopathy manifesting in early childhood
Archives of ophthalmology (1960), Vol.128(12), pp.1590-1595
12/2010
DOI: 10.1001/archophthalmol.2010.295
PMCID: PMC3258021
PMID: 21149784
Abstract
To describe the clinical, molecular, and serologic findings of a case in which autoimmune retinopathy and early-onset heritable retinal degeneration were both considered in the differential diagnosis. A 3-year-old girl had clinical findings suggestive of a childhood-onset retinal degeneration. Samples of DNA and serum were collected. The coding regions of 11 genes associated with Leber congenital amaurosis were sequenced. The patient's serum reactivity to soluble and insoluble fractions of human retinal protein was compared with that of healthy control subjects (n = 32), patients with inflammatory eye disease (n = 80), and patients with molecularly confirmed retinal degenerations (n = 11). Two-dimensional gel electrophoresis and mass spectrometry were used to identify a protein that corresponded to a reactive band on Western blot. No plausible disease-causing mutations were identified in any of the retinal disease genes tested. However, the patient's serum showed reactivity to a single retinal antigen of approximately 47 kDa. Two-dimensional gel electrophoresis and mass spectrometry revealed the major reactive species to be neuron-specific enolase (NSE). Autoantibodies targeting NSE were not observed in any healthy control subjects or patients with inflammatory eye disease. However, anti-NSE activity was found in 1 child with molecularly confirmed Leber congenital amaurosis. This patient's clinical and laboratory findings coupled with the recently discovered role of anti-NSE antibodies in canine autoimmune retinopathy suggest that autoantibodies targeting NSE are involved in the pathogenesis of her disease. Infection or inflammation within the retina early in life may lead to an autoimmune phenocopy of early-onset inherited retinal degeneration.
Details
- Title: Subtitle
- Anti-γ-enolase autoimmune retinopathy manifesting in early childhood
- Creators
- Audrey C Ko - Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, 52242, USAJasmine HernándezJason P BrintonElizabeth A FaidleySarah A MuggeMarilyn B MetsRandy H KardonJames C FolkRobert F MullinsEdwin M Stone
- Resource Type
- Journal article
- Publication Details
- Archives of ophthalmology (1960), Vol.128(12), pp.1590-1595
- DOI
- 10.1001/archophthalmol.2010.295
- PMID
- 21149784
- PMCID
- PMC3258021
- NLM abbreviation
- Arch Ophthalmol
- ISSN
- 0003-9950
- eISSN
- 1538-3601
- Publisher
- American Medical Association; United States
- Grant note
- EY-016822 / NEI NIH HHS EY-017451 / NEI NIH HHS R01 EY017451 / NEI NIH HHS R01 EY016822 / NEI NIH HHS R01 EY016822-07 / NEI NIH HHS
- Language
- English
- Date published
- 12/2010
- Academic Unit
- Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980072402771
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