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Coats Plus Syndrome Presenting in an Adult

Fae B Kayarian1, Steven M Cohen2,3, Mark L Cohen4

  • 1Rush Medical College of Rush University Medical Center, Chicago, IL, USA.

Journal of Vitreoretinal Diseases
|November 17, 2023
PubMed

Insights

Coats plus syndrome (CPS) can manifest as retinal vascular disease with capillary nonperfusion. Genetic testing for the CTC1 gene confirms CPS diagnosis in adults with suggestive systemic symptoms and vision loss.

Area of Science:

  • Ophthalmology
  • Genetics
  • Vascular Biology

Background:

  • Coats plus syndrome (CPS) is a rare genetic disorder.
  • CPS is characterized by retinal vascular abnormalities, neurological issues, and systemic manifestations.
  • Retinal capillary nonperfusion is a significant ocular finding in CPS.

Keywords:
CTC1Coats plus syndromecapillary nonperfusioncerebroretinal microangiopathy with calcifications and cystsleukodystrophyretinaretinal telangiectasia exudatesretinal vascular disease

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