May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
Retinal Degeneration in an Adult With Long–Chain 3–Hydroxy Acyl–CoA Dehydrogenase Deficiency
Author Affiliations & Notes
  • S.S. Park
    Ophthalmology, University of California Davis, Sacramento, CA
    Ophthalmology, The Permanente Medical Group, Inc., Sacramento, CA
  • J.L. Keltner
    Ophthalmology, University of California Davis, Sacramento, CA
  • Footnotes
    Commercial Relationships  S.S. Park, None; J.L. Keltner, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 541. doi:
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    • Get Citation

      S.S. Park, J.L. Keltner; Retinal Degeneration in an Adult With Long–Chain 3–Hydroxy Acyl–CoA Dehydrogenase Deficiency . Invest. Ophthalmol. Vis. Sci. 2005;46(13):541.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose: To report the first case of an adult with long–chain 3–hydroxy acyl–CoA dehydrogenase deficiency and vision loss from retinal degeneration. Methods: A case report of the oldest living individual with long–chain 3–hydroxy acyl–CoA dehydrogenase deficiency. Results: A 19 yo male presented with progressive loss of vision for 14 yrs. Visual acuity was 20/150 OU. Funduscopic exam revealed a large area of chorioretinal atrophy in the posterior pole OU. Visual field testing showed a large dense central scotoma OU. ERG testing revealed marked reduction in amplitude in both eyes under photopic and scotopic conditions consistent with rod/cone degeneration. Conclusions: Individuals with 3–hydroxy acyl–CoA dehydrogenase deficiency who survive to adulthood can develop a progressive form of retinal degeneration leading to loss of central vision and a large central scotoma in both eyes.

Keywords: clinical (human) or epidemiologic studies: natural history • retinal degenerations: hereditary • retina 
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