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Sorsby Pseudoinflammatory Fundus Dystrophy.

Stephen H Tsang1,2, Tarun Sharma3

  • 1Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

Advances in Experimental Medicine and Biology
|December 23, 2018
PubMed
Summary
This summary is machine-generated.

This inherited retinal disease causes vision loss due to drusen-like deposits and geographic atrophy. Early onset choroidal neovascularization mimics age-related macular degeneration, leading to significant central vision impairment.

Keywords:
Autosomal dominantSorsby fundus dystrophy

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Area of Science:

  • Ophthalmology
  • Medical Genetics

Background:

  • A dominantly inherited retinal disease characterized by sub-retinal pigment epithelium deposits.
  • Progression involves geographic atrophy or scarring from choroidal neovascularization.

Purpose of the Study:

  • To describe the clinical presentation and progression of this inherited macular disease.
  • To differentiate it from age-related macular degeneration based on onset and pathology.

Main Methods:

  • Clinical observation and description of disease progression.
  • Histopathological correlation (implied by figures).

Main Results:

  • Early signs include drusen-like deposits beneath the retinal pigment epithelium.
  • Disease progresses to geographic atrophy or choroidal neovascularization around age 40.
  • Central vision loss (20/200 or less) occurs in the fourth to sixth decade.

Conclusions:

  • This inherited condition presents earlier than typical age-related macular degeneration.
  • Choroidal neovascularization is a key feature mimicking AMD but with an earlier onset.