August 1996
Volume 37, Issue 9
Free
Articles  |   August 1996
Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration.
Author Affiliations
  • C A Kuntz
    Department of Ophthalmology, University of Washington, Seattle 98195-6485, USA.
  • S G Jacobson
    Department of Ophthalmology, University of Washington, Seattle 98195-6485, USA.
  • A V Cideciyan
    Department of Ophthalmology, University of Washington, Seattle 98195-6485, USA.
  • Z Y Li
    Department of Ophthalmology, University of Washington, Seattle 98195-6485, USA.
  • E M Stone
    Department of Ophthalmology, University of Washington, Seattle 98195-6485, USA.
  • D Possin
    Department of Ophthalmology, University of Washington, Seattle 98195-6485, USA.
  • A H Milam
    Department of Ophthalmology, University of Washington, Seattle 98195-6485, USA.
Investigative Ophthalmology & Visual Science August 1996, Vol.37, 1772-1782. doi:
  • Views
  • PDF
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      C A Kuntz, S G Jacobson, A V Cideciyan, Z Y Li, E M Stone, D Possin, A H Milam; Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration.. Invest. Ophthalmol. Vis. Sci. 1996;37(9):1772-1782.

      Download citation file:


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

      ×
  • Supplements
Abstract

PURPOSE: To determine the pathogenesis of an autosomal dominant late-onset retinal degeneration by studies of the retinal histopathology, phenotype of family members, and candidate genes for the disease. METHODS: The retina from an 80-year-old patient donor was prepared for light and electron microscopy, including special stains and immunocytochemistry. Family members were examined clinically and with retinal function tests. Rhodopsin, peripherin/RDS, and TIMP3 genes were screened for mutations, and linkage analysis was performed with short tandem repeat polymorphisms flanking these genes. RESULTS: Affected family members had nyctalopia in the sixth decade of life and severe visual loss developed by the eighth decade. The donor retina showed marked loss of photoreceptors except in the inferior periphery. A thick layer of extracellular deposits was present between the RPE and Bruch's membrane in all retinal regions. A 70-year-old affected family member had a retinopathy resembling retinitis pigmentosa. Her 42-year-old daughter had a patch of punctate yellow-white lesions in one fundus and abnormal dark adaptation. The 50-year-old son of the donor had normal fundi but abnormal dark adaptation and electroretinography. No mutations were detected in the coding sequence of the rhodopsin, peripherin/RDS, and TIMP3 genes. Rhodopsin and TIMP3 were further excluded with linkage analysis. CONCLUSIONS: This novel retinal degeneration shares histopathologic and clinical features with both Sorsby fundus dystrophy and retinitis pigmentosa. The sub-RPE deposits may disrupt the exchange of nutrients and metabolites between the retina and the choriocapillaris, leading to photoreceptor dysfunction and degeneration.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×